Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessiv...

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Autores principales: Chalmers, R M, Riordan-Eva, P, Wood, N W
Formato: Artigo
Lenguaje:Inglês
Publicado: 1997
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1074097/
https://ncbi.nlm.nih.gov/pubmed/9120454
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