Mitochondrial Myopathies

Mitochondrial myopathies are a ubiquitous accompaniment of most diseases of oxidative phosphorylation in all

classes (I to IV) but can occur as the sole symptom, owing to disorders of class I, II, and IV. y In class I there may be autosomal dominant or recessive presentations with tissue- specific presentations; in class II these may or may not have ragged red fibers; and in class IV the distribution of the myopathy is variable: fascioscapulohumeral, limb-girdle, generalized, with childhood, adolescent, and adult- onset forms. Class IV present usually as singleton cases; familial cases suggest class I and II disorders.

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