Pure mitochondrial myopathy (Q106079): Difference between revisions

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Latest revision as of 12:52, 17 August 2026

Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems.

Language	Label	Description	Also known as
default for all languages	ID_141365898
English	Pure mitochondrial myopathy	Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems.