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Giant axonal neuropathy: normal protein composition of neurofilaments.

A 14-year-old boy had progressive weakness and ataxia since two years of age with tightly curled hair, facial diplegia, distal weakness and hypaesthesia, cerebellar syndrome and normal intelligence. He also had distal renal tubular acidosis manifested by metabolic acidosis. Sural nerve ultrastructur...

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Autors principals: Ionasescu, V, Searby, C, Rubenstein, P, Sandra, A, Cancilla, P, Robillard, J
Format: Artigo
Idioma:Inglês
Publicat: 1983
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1027447/
https://ncbi.nlm.nih.gov/pubmed/6410005
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