Open AccessIsolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency
Author(s) -
Seema R. Lalani,
Georgirene D. Vladutiu,
Katie Plunkett,
Timothy Lotze,
Adekunle M. Adesina,
Fernando Scaglia
Publication year - 2005
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.62.2.317
Subject(s) - mitochondrial myopathy , coenzyme q – cytochrome c reductase , coenzyme q10 , myopathy , mitochondrial disease , myoglobinuria , creatine kinase , medicine , endocrinology , skeletal muscle , muscle biopsy , muscle weakness , respiratory chain , mitochondrial respiratory chain , citrate synthase , biology , mitochondrion , biochemistry , cytochrome c , biopsy , enzyme , mitochondrial dna , rhabdomyolysis , gene
Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures.
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