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Results: 5

1.

coenzyme Q10

A nutrient that the body needs in small amounts to function and stay healthy. Coenzyme Q10 helps mitochondria (small structures in the cell) make energy. It is an antioxidant that helps prevent cell damage caused by free radicals (highly reactive chemicals). Coenzyme Q10 is fat-soluble (can dissolve in fats and oils) and is found in fatty fish, beef, soybeans, peanuts, and spinach. It is being studied in the prevention and treatment of some types of cancer and heart disease and in the relief of side effects caused by some cancer treatments. [from NCI]

MedGen UID:
63385
Concept ID:
C0056077
Pharmacologic Substance
2.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Error occurred: cannot get document summary

ID:
449624

4.

Myopathy

Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. [from MeSH]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
5.

Coenzyme Q10 deficiency

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; and COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24. A single patient with primary CoQ10 deficiency associated with a de novo heterozygous 3.9-Mb deletion on chromosome 9q34 has been reported; the deleted region included at least 80 genes, 1 of which was COQ4 (612898) (Salviati et al., 2012). Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13. [from OMIM]

MedGen UID:
334528
Concept ID:
C1843920
Disease or Syndrome

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