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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Ionasescu, V, Searby, C, Rubenstein, P, Sandra, A, Cancilla, P, Robillard, J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1983
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1027447/
https://ncbi.nlm.nih.gov/pubmed/6410005
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