Neurology. 2006 Mar 14;66(5):752-4.

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP.

Source

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy. roberto.delbo@unimi.it

Abstract

An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.

PMID:: 16534118; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Glycine-tRNA Ligase

Grant Support

GTF02008/Telethon/Italy

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. [Brain. 2005]
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, et al. Brain. 2005 Oct; 128(Pt 10):2304-14. Epub 2005 Jul 13.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. [Am J Hum Genet. 2003]
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, et al. Am J Hum Genet. 2003 May; 72(5):1293-9. Epub 2003 Apr 10.
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. [J Peripher Nerv Syst. 2012]
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
Eskuri JM, Stanley CM, Moore SA, Mathews KD. J Peripher Nerv Syst. 2012 Mar; 17(1):132-4.
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. [J Hum Genet. 2009]
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
Abe A, Hayasaka K. J Hum Genet. 2009 May; 54(5):310-2. Epub 2009 Mar 27.
Review Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. [Am J Med Genet. 2002]
Review Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE. Am J Med Genet. 2002 Apr 1; 108(4):295-303.

See reviews... See all...

Cited by 10 PubMed Central articles

The use of next-generation sequencing in movement disorders. [Front Genet. 2012]
The use of next-generation sequencing in movement disorders.
Krebs CE, Paisán-Ruiz C. Front Genet. 2012; 3:75. Epub 2012 May 14.
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. [J Peripher Nerv Syst. 2012]
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
Eskuri JM, Stanley CM, Moore SA, Mathews KD. J Peripher Nerv Syst. 2012 Mar; 17(1):132-4.
Review GARS axonopathy: not every neuron's cup of tRNA. [Trends Neurosci. 2010]
Review GARS axonopathy: not every neuron's cup of tRNA.
Motley WW, Talbot K, Fischbeck KH. Trends Neurosci. 2010 Feb; 33(2):59-66.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
ClinVar
Clinical variations associated with publication
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GA...
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
Neurology. 2006 Mar 14 ;66(5):752-4.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: