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ORPHA:2596· ICD-10 G71.3· Myopathy and diabetes mellitus

Визначення(English summary)

A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

Успадкування
Mitochondrial inheritance
Вік початку
Adolescent, Adult, Childhood, Infancy, Neonatal