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Spinocerebellar Ataxia Type 28

Synonym: SCA28

, MD, , PhD, and , MD, PhD.

Author Information
, MD
Department of Genetics, Biology, and Biochemistry
University of Turin
Turin, Italy
, PhD
Department of Genetics, Biology, and Biochemistry
University of Turin
Turin, Italy
, MD, PhD
AP-HP Département de Génétique
Institut du Cerveau et de la Moelle Epinière
Hôpital de la Pitié-Salpêtrière
Paris, France

Initial Posting: ; Last Revision: February 7, 2013.


Clinical characteristics.

Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, slowly progressive gait and limb ataxia, dysarthria, hyperreflexia of the lower limbs, nystagmus, and ophthalmoparesis. The usual age at onset is early adulthood (24.4 ± 14.9 years); range is from age three to 60 years. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.


No features of SCA28 are pathognomonic; therefore, diagnosis depends on molecular genetic testing of AFG3L2, the only gene in which mutation is known to cause SCA28.


Treatment of manifestations: Crutches (less often canes) and walkers; home adaptations (e.g., grab bars for the bathtub or shower chairs) as needed; speech/language therapy for those with dysarthria and swallowing difficulties; physical therapy can help with tasks such as eating, dressing, walking, and bathing. Surgery as needed for severe ptosis.

Prevention of secondary complications: Psychological support; weight control to facilitate ambulation; thickened feeds or gastrostomy feedings to avoid aspiration pneumonia.

Surveillance: Annual assessment to evaluate stability or progression of the cerebellar ataxia. Monitoring of speech and swallowing.

Agents/circumstances to avoid: Alcohol consumption and sedatives such as benzodiazepines that may worsen gait ataxia and coordination.

Genetic counseling.

SCA28 is inherited in an autosomal dominant manner. Most individuals diagnosed with SCA28 have an affected parent; the proportion of cases caused by de novo mutation is unknown. Each child of an individual with SCA28 has a 50% risk of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in the family has been identified.


Clinical Diagnosis

The diagnosis of spinocerebellar ataxia type 28 (SCA28) should be considered in the presence of the following:

  • Onset generally in young adulthood (but wide range: ages 3-60 years)
  • A slowly progressive gait disorder resulting from cerebellar impairment
  • Oculomotor abnormalities, especially ptosis
  • An MRI showing cerebellar atrophy predominantly of the superior vermis, with sparing of the brain stem
  • A family history consistent with autosomal dominant inheritance

No features of SCA28 are pathognomonic; therefore, diagnosis depends on molecular genetic testing.

Molecular Genetic Testing

Gene. AFG3L2, encoding for ATPase family gene 3-like 2, is the only gene in which mutation is known to cause SCA28.

Clinical testing

Table 1.

Summary of Molecular Genetic Testing Used in SCA 28

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
AFG3L2Sequence analysis 4Sequence variants12/12 5

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a mutation that is present in the indicated gene


Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Testing Strategy

Individuals with a positive family history of autosomal dominant cerebellar ataxia should be tested for pathogenic variants in the genes associated with the most common inherited ataxias, including SCA1, 2, 3, 6, 7, 17, DRPLA, and SCA14 (See Hereditary Ataxia Overview).

Individuals who represent simplex cases (i.e., a single occurrence of ataxia in a family) rarely have a pathogenic variant in one of the known genes [Fogel & Perlman 2007, Klockgether 2010].

To confirm/establish the diagnosis in a proband. Because exons 15 and 16 of AFG3L2 appear to be mutational hotspots [Cagnoli et al 2010, Di Bella et al 2010], sequence analysis of these two exons could be the first step in testing, followed by sequence analysis of the whole coding region and intron-exon boundaries in individuals in whom no pathogenic variant is identified.

Predictive testing for at-risk asymptomatic adult family members requires prior identification of the pathogenic variant in the family.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the pathogenic variant in the family.

Clinical Characteristics

Clinical Description

No prospective natural history study has yet been published. The following discussion of the natural history of spinocerebellar ataxia type 28 (SCA28) is based on the findings reported in 12 families (43 individuals) published to date [Mariotti et al 2008, Cagnoli et al 2010, Edener et al 2010].

The phenotype is characterized by young-adult onset, slowly progressive gait and limb ataxia, dysarthria, hyperreflexia of the lower limbs, nystagmus, and ophthalmoparesis.

The usual age at onset is early adulthood (24.4 ± 14.9 years); the range is from age three to 60 years. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.

Cerebellar ataxia is associated with dysarthria.

Reflexes are usually increased in the lower limbs (31/41; 76%), and Babinski sign is present in 10/37 (27%).

Oculomotor abnormalities are present in 32/40 (80%), including limited gaze (~50%) and gaze-evoked nystagmus (19/39; 49%).

Ptosis is present in 15/31 (48%).

Decreased vibration sense at the ankles is present in 9/20 (45%), but superficial sensation is always normal.

Extrapyramidal signs, either parkinsonism (mainly rigidity and/or bradykinesia) or dystonia, were observed in 6/25 (24%).

Low IQs, cognitive difficulties, and/or behavior problems have been reported in 8/43 (19%).

Electrophysiologic studies. Conduction velocities were normal in seven affected individuals, some neurogenic changes have been observed in two [Cagnoli et al 2010]. At present, there is no evidence of peripheral neuropathy.

Genotype-Phenotype Correlations

For the most part, each pathogenic variant reported to date has occurred in a single family only.

No genotype-phenotype correlations can be proposed based on published studies although persons with the p.Met666Arg and p.Glu700Lys pathogenic variants have early-onset disease (i.e., in infancy/childhood), whereas the other missense mutations are mainly associated with onset in the second to fourth decade [Mariotti et al 2008, Cagnoli et al 2010, Edener et al 2010].


From the studies published to date, disease penetrance appears to be complete.

Three individuals with mutation of AFG3L2 were not symptomatic.

  • In one case, this could be attributed to the young age of the tested individual, who may therefore be presymptomatic [Cagnoli et al 2010].
  • The other two are the mother and maternal uncle of a symptomatic individual: in this family, it has been proposed that a variant in SPG7 may modify the phenotype caused by mutation of AFG3L2 [Di Bella et al 2010].
    Note: The possibility of a sequence variant in SPG7 modifying the phenotype caused by mutation of AFG3L2 is yet to be confirmed.


One to three Europeans in 100,000 have autosomal dominant cerebellar ataxia (ADCA) and, to date, causative pathogenic variants in 18 genes have been identified. The most frequent subtype is SCA3.

Testing for the most common ADCAs (SCA1, 2, 3, 6, 7, and 17) identifies a pathogenic variant in approximately 44% (ranging from 1 to 90% in different published reports), but the diagnosis remains unknown in many patients [Durr 2010].

According to published data, point mutations in AFG3L2 account for approximately 1.5% of ADCA in individuals of European origin [Di Bella et al 2010, Cagnoli et al 2010, Edener et al 2010], with an estimated incidence of approximately 0.045 in 100,000.

Differential Diagnosis

The ataxic gait of persons with SCA28 is indistinguishable from that seen in other adult-onset inherited or acquired ataxias. When the family history suggests autosomal dominant inheritance, all other autosomal dominant cerebellar ataxias (ADCAs) have to be considered (see Hereditary Ataxia Overview).

Mitochondrial disorders, especially those associated with external ophthalmoplegia and ptosis, should be considered as well (see Mitochondrial DNA Deletion Syndromes and Mitochondrial Disease Overview).


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with spinocerebellar ataxia type 28 (SCA28) the following evaluations are recommended:

  • Neurologic examination (including scales to evaluate the severity of cerebellar ataxia and to allow subjective follow up)
  • Cerebral MRI
    Note: MRI is part of the routine evaluation of persons with ataxia; however, in SCA28 no association between the extent of cerebellar atrophy and disease severity or progression has been proven.
  • Speech assessment
  • Examination by an ophthalmologist
  • Evaluation of cognitive abilities

Treatment of Manifestations

At present, only symptomatic treatments are available. These include the following:

  • Crutches (less often canes) and walkers
  • Home adaptations including grab bars for the bathtub or shower chairs and raised toilet seats as needed
  • Speech/language therapy for dysarthria and swallowing difficulties
  • Physical therapy to ameliorate coordination difficulties, especially with tasks such as eating, dressing, walking, and bathing
  • Surgical intervention as needed for severe ptosis

Prevention of Secondary Complications

Psychological support helps affected individuals cope with the consequences of the disease.

Weight control can facilitate ambulation.

To avoid complications such as aspiration pneumonia, thickened feeds or gastrostomy should be considered.


Annual assessment of the cerebellar ataxia using SARA (Scale for the Assessment and Rating of Cerebellar Ataxia), CCFS (Composite Cerebellar Functional Severity Score), or similar scales should be performe to evaluate stability or progression of the disease.

Monitoring of speech and swallowing difficulties is recommended.

Agents/Circumstances to Avoid

Alcohol consumption and sedatives such as benzodiazepines may exacerbate gait ataxia and coordination difficulties.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Spinocerebellar ataxia type 28 (SCA28) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

  • Most individuals diagnosed with SCA28 have an affected parent.
  • A proband with SCA28 may have the disorder as the result of a new mutation. The proportion of cases caused by de novo mutation is unknown.
  • If the pathogenic variant found in the proband cannot be detected in leukocyte DNA of either parent, two possible explanations are germline mosaicism in a parent or de novo mutation in the proband. Although no instances of germline mosaicism have been reported, it remains a possibility.
  • Recommendations for the evaluation of parents of a proband with apparent de novo mutation include genetic counseling with psychological support. Evaluation of parents may determine that one is affected but has escaped previous diagnosis because of a milder phenotypic presentation. Therefore, an apparently negative family history cannot be confirmed until appropriate evaluations have been performed.

Note: (1) Although most individuals diagnosed with SCA28 have an affected parent, the family history may appear to be negative because of early death of the parent before the onset of symptoms or late onset of the disease in the affected parent. (2) If the parent is the individual in whom the mutation first occurred, s/he may have somatic mosaicism for the pathogenic variant and may be mildly/minimally affected.

Sibs of a proband

  • The risk to the sibs of the proband depends on the genetic status of the proband’s parents.
  • If a parent of the proband is affected or has a pathogenic variant in AFG3L2, the risk to the sibs of inheriting the variant is 50%.
  • The sibs of a proband with clinically unaffected parents are still at risk for SCA28 because of the theoretic possibility of reduced penetrance in a parent.
  • If the pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the risk to sibs is low, but greater than that of the general population because of the theoretic possibility of germline mosaicism.

Offspring of a proband. Each child of an individual with SCA28 is at a 50% risk of inheriting the pathogenic variant.

Other family members

  • The risk to other family members depends on the status of the proband's parents.
  • If a parent is affected, his or her family members may be at risk.

Related Genetic Counseling Issues

Considerations in families with apparent de novo mutation. When neither parent of a proband with an autosomal dominant condition has clinical evidence of the disorder it is likely that the proband has the disorder as a result of de novo mutation. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Testing of at-risk asymptomatic adults. Testing of at-risk asymptomatic adults for SCA28 is possible using the techniques described in Molecular Genetic Testing. Such testing is not useful in accurately predicting age of onset, disease severity, type of symptoms, or rate of progression in asymptomatic individuals. When testing at-risk individuals for SCA28 an affected family member should be tested first to confirm the molecular diagnosis in the family.

Testing for the pathogenic variant in the absence of definite symptoms of the disease is predictive testing. At-risk asymptomatic adult family members may seek testing in order to make personal decisions regarding reproduction, financial matters, and career planning. Others may have different motivations including simply the "need to know." Testing of asymptomatic at-risk adult family members should involve pre-test interviews in which the motives for requesting the test, the individual's knowledge of SCA28, the possible impact of positive and negative test results, and neurologic status are assessed. Those seeking testing should be counseled about possible problems that they may encounter with regard to health, life, and disability insurance coverage, employment and educational discrimination, and changes in social and family interaction. Other issues to consider are implications for the at-risk status of other family members. Informed consent should be procured and records kept confidential. Individuals with a positive test result need arrangements for long-term follow-up and evaluations.

Molecular genetic testing of asymptomatic individuals younger than age 18 years who are at risk for adult-onset disorders for which no treatment exists is not considered appropriate, primarily because it negates the autonomy of the child with no compelling benefit. Further, concern exists regarding the potential unhealthy adverse effects that such information may have on family dynamics, the risk of discrimination and stigmatization in the future, and the anxiety that such information may cause.

For more information, see also the National Society of Genetic Counselors position statement on genetic testing of minors for adult-onset conditions and the American Academy of Pediatrics and American College of Medical Genetics and Genomics policy statement: ethical and policy issues in genetic testing and screening of children.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the AFG3L2 pathogenic variant has been identified in the family, prenatal diagnosis for pregnancies at increased risk may be available from a laboratory offering testing for this gene or custom prenatal testing.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the pathogenic variant has been identified.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • NCBI Genes and Disease
  • Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing
    Booklet providing information about Spinocerebellar Ataxia
  • Ataxia UK
    Lincoln House
    1-3 Brixton Road
    London SW9 6DE
    United Kingdom
    Phone: 0845 644 0606 (helpline); 020 7582 1444 (office); +44 (0) 20 7582 1444 (from abroad)
  • euro-ATAXIA (European Federation of Hereditary Ataxias)
    Ataxia UK
    Lincoln House, Kennington Park, 1-3 Brixton Road
    London SW9 6DE
    United Kingdom
    Phone: +44 (0) 207 582 1444
  • International Network of Ataxia Friends (INTERNAF)
  • National Ataxia Foundation
    2600 Fernbrook Lane
    Suite 119
    Minneapolis MN 55447
    Phone: 763-553-0020
  • Spanish Ataxia Federation (FEDAES)
    Phone: 34 983 278 029; 34 985 097 152; 34 634 597 503
  • CoRDS Registry
    Sanford Research
    2301 East 60th Street North
    Sioux Falls SD 57104
    Phone: 605-312-6423

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Spinocerebellar Ataxia Type 28: Genes and Databases

GeneChromosome LocusProteinLocus SpecificHGMD
AFG3L218p11​.21AFG3-like protein 2AFG3L2 databaseAFG3L2

Data are compiled from the following standard references: gene from HGNC; chromosome locus, locus name, critical region, complementation group from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B.

OMIM Entries for Spinocerebellar Ataxia Type 28 (View All in OMIM)


Pathogenic allelic variants. All pathogenic allelic variants known are missense mutations or small in/dels.

Table 2.

Selected Pathogenic AFG3L2 Allelic Variants

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​ See Quick Reference for an explanation of nomenclature.


Variant designation that does not conform to current naming conventions

Normal gene product. AFG3L2 encodes an ATP-dependent metalloprotease belonging to the AAA-superfamily (ATPases associated with a variety of cellular activities). This gene was cloned as a paralog of SPG7 (paraplegin) [Banfi et al 1999], whose homozygous inactivation causes an autosomal recessive form of hereditary spastic paraplegia (HSP) [Casari et al 1998]. (See Spastic Paraplegia 7).

Both AFG3L2 and paraplegin are mitochondrial proteins, and are highly conserved through evolution, the orthologous protein FtsH being present in E. coli [Ito & Akiyama 2005].

The two proteins have been extensively studied in yeast models (orthologous genes are Yta10 (SPG7) and Yta12 (AFG3L2). Yta10p-12p constitutes a membrane-embedded complex of approximately 850 kd (m-AAA protease), active on the matrix side of the inner mitochondrial membrane (IMM) [Arlt et al 1996, Arlt et al 1998].

Studies in yeast assigned a dual activity to the m-AAA protease for protein degradation and activation (cleavage) [Nolden et al 2005]:


It conducts protein quality surveillance in the IMM and degrades non-assembled membrane proteins to peptides [Arlt et al 1996, Leonhard et al 2000];


It mediates protein processing and thereby activates certain mitochondrial proteins [Koppen et al 2009].

Abnormal gene product. Except for one pathogenic variant (c.1295A>C; p.Asn432Thr), all known pathogenic variants are located in the M41-protease domain of the AFG3L2 protein [Cagnoli et al 2010, Di Bella et al 2010, Edener et al 2010].

The clustering of missense and small indel mutations in a narrow region of the gene suggests that this particular region encodes a critical functional domain. Several mutations occur on the same two codons: Met666 and Gly671.

Yta10-Yta12 deficient yeast cells fail to be complemented by expression of mutated human AFG3L2 protein [Di Bella et al 2010].


Published Guidelines/Consensus Statements

  1. Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 4-13-15. [PubMed: 23428972]
  2. National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset disorders. Available online. 2012. Accessed 4-13-15.

Literature Cited

  1. Arlt H, Steglich G, Perryman R, Guiard B, Neupert W, Langer T. The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. EMBO J. 1998;17:4837–47. [PMC free article: PMC1170813] [PubMed: 9707443]
  2. Arlt H, Tauer R, Feldmann H, Neupert W, Langer T. The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. Cell. 1996;85:875–85. [PubMed: 8681382]
  3. Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics. 1999;59:51–8. [PubMed: 10395799]
  4. Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A. Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010;31:1117–24. [PubMed: 20725928]
  5. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998;93:973–83. [PubMed: 9635427]
  6. Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010;42:313–21. [PubMed: 20208537]
  7. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:885–894. [PubMed: 20723845]
  8. Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet. 2010;2010;18:965–8. [PMC free article: PMC2987378] [PubMed: 20354562]
  9. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6:245–57. [PubMed: 17303531]
  10. Ito K, Akiyama Y. Cellular functions, mechanism of action, and regulation of FtsH protease. Annu Rev Microbiol. 2005;59:211–31. [PubMed: 15910274]
  11. Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol. 2010;9:94–104. [PubMed: 20083040]
  12. Koppen M, Bonn F, Ehses S, Langer T. Autocatalytic processing of m-AAA protease subunits in mitochondria. Mol Biol Cell. 2009;20:4216–24. [PMC free article: PMC2754935] [PubMed: 19656850]
  13. Leonhard K, Guiard B, Pellecchia G, Tzagoloff A, Neupert W, Langer T. Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface. Mol Cell. 2000;5:629–38. [PubMed: 10882099]
  14. Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum. 2008;7:184–8. [PubMed: 18769991]
  15. Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell. 2005;123:277–89. [PubMed: 16239145]

Suggested Reading

  1. Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005;42:98–102. [PMC free article: PMC1735984] [PubMed: 15689446]
  2. Lichtenstein L, Kaplan L. Alkaptonuria and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease, Vol 2. 8 ed. New York, NY: McGraw-Hill; 2001:2109-23.
  3. Muntoni F. Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol. 2004;23:79–84. [PubMed: 15605948]
  4. Wolfsdorf JI, Weinstein DA. Glycogen storage diseases. Rev Endocr Metab Disord. 2003;4:95–102. [PubMed: 12618563]

Chapter Notes


Telethon Foundation support is gratefully acknowledged (grant GGP07110)

Revision History

  • 7 February 2013 (cd) Revision: prenatal diagnosis available
  • 17 May 2011 (me) Review posted live
  • 7 February 2011 (ab) Original submission
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