title: [Familial neural mitochondrial deafness].
abstract: Mitochondrial abnormalities are known to cause several neurological syndromes that often include hearing loss as one of their features. We present two brothers with mitochondrial cytopathy and hearing loss. The audiological and electrocochleographic findings suggest a neural origin for the hearing impairment. Muscle biopsy is an important tool for the diagnosis of these syndromes in patients with audiological evidence of a bilateral neural hearing loss and neurological abnormalities.
authors: HNO-Klinik, Medizinischen Hochschule Hannover.
authors: N
authors: N
authors: Marangos
authors: A
authors: A
authors: Mausolf
mesh_terms: D000328:Adult; D001706:Biopsy; D002531:Cerebellum / Q000002:abnormalities; D003402:Creatine Kinase / Q000097:blood; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D006320:Hearing Tests / Q000379:methods; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: D003402:Creatine Kinase
vernacular_title: Familiäre neurale mitochondriale Schwerhörigkeit.