NARP syndrome; Neuropathy ataxia and retinis pigmentosa
Supergrp
ATP synthase deficiency [DS:H01369] Mitochondrial disease [DS:H01427]
Description
Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease.
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C73 Mitochondrial myopathies
H01363 NARP syndrome
