[Hereditary neuropathy with dominant inheritance, giant axons and cardiac involvement].
Showing the clinical, genetic and electrophysiological features, the diagnosis of hereditary motor and sensory neuropathy type II (HMSN) in a german kinship was questioned by unusual findings in 3 members of the family: they presented signs suggestive of cardiomyopathy and the sural nerve biopsy showed occasional giant axons with neurofilament accumulation. These findings may mean either a new type within the heterogeneous group of peroneal muscular atrophies or that these features have not been realized in HMSN II as yet.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000235:genetics; D001369:Axons / Q000648:ultrastructure*; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D002648:Child; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology; D009435:Synaptic Transmission
Hereditäre Neuropathie mit dominantem Erbgang, Riesenaxonen und kardialer Beteiligung.