Article
Biochemical and genetic studies in a family with mitochondrial myopathy.
Muscle & nerve - 1 Oct 1997
Heiman-Patterson T D, Argov Z, Chavin J M, Kalman B, Alder H, DiMauro S, Bank W, Tahmoush A J
Abstract excerpt
We present a family with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. Fifteen of 24 family members in five generations were affected. Since the affected males do not have offspring at this time, the family pedigree is consistent with either maternal or autosomal dominant inheritance. Muscle histochemistry showed ragged-red fibers and electron microscopy showed globular...
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