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Mitochondrial myopathies.
Curr Opin Rheumatol. 2006 Nov; 18(6):636-41.CO

Abstract

PURPOSE OF REVIEW

Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle.

RECENT FINDINGS

The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with decreased amount and altered structure of cardiolipin, the main phospholipid of the inner mitochondrial membrane, but a secondary impairment of respiratory chain function is plausible. The role of mutations in protein-coding genes of mitochondrial DNA in causing isolated myopathies has been confirmed. Mutations in tRNA genes of mitochondrial DNA can also cause predominantly myopathic syndromes and--contrary to conventional wisdom--these mutations can be homoplasmic.

SUMMARY

Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

Authors+Show Affiliations

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. sd12@columbia.edu

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

17053512

Citation

DiMauro, Salvatore. "Mitochondrial Myopathies." Current Opinion in Rheumatology, vol. 18, no. 6, 2006, pp. 636-41.
DiMauro S. Mitochondrial myopathies. Curr Opin Rheumatol. 2006;18(6):636-41.
DiMauro, S. (2006). Mitochondrial myopathies. Current Opinion in Rheumatology, 18(6), 636-41.
DiMauro S. Mitochondrial Myopathies. Curr Opin Rheumatol. 2006;18(6):636-41. PubMed PMID: 17053512.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mitochondrial myopathies. A1 - DiMauro,Salvatore, PY - 2006/10/21/pubmed PY - 2007/1/31/medline PY - 2006/10/21/entrez SP - 636 EP - 41 JF - Current opinion in rheumatology JO - Curr Opin Rheumatol VL - 18 IS - 6 N2 - PURPOSE OF REVIEW: Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle. RECENT FINDINGS: The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with decreased amount and altered structure of cardiolipin, the main phospholipid of the inner mitochondrial membrane, but a secondary impairment of respiratory chain function is plausible. The role of mutations in protein-coding genes of mitochondrial DNA in causing isolated myopathies has been confirmed. Mutations in tRNA genes of mitochondrial DNA can also cause predominantly myopathic syndromes and--contrary to conventional wisdom--these mutations can be homoplasmic. SUMMARY: Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia. SN - 1040-8711 UR - https://www.unboundmedicine.com/medline/citation/17053512/Mitochondrial_myopathies_ L2 - https://doi.org/10.1097/01.bor.0000245729.17759.f2 DB - PRIME DP - Unbound Medicine ER -