Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay

Disease - Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay

Definition

A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.

Acronym

MPMCHD

Synonyms

Combined mitochondrial complex deficiency
Myopathy with cataract and combined respiratory chain deficiency

Keywords

› Deafness
› Cataract
› Primary mitochondrial disease

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Disease - Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay

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Disease - Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay

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