Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

Three families presenting with X-linked recessive Charcot-Marie-Tooth neuropathies (CMT) were studied both clinically and genetically. The disease phenotype in family 1 was typical of CMT type 1, except for an infantile onset; two of five affected individuals were mentally retarded, and obligate-car...

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Autors principals: Ionasescu, V V, Trofatter, J, Haines, J L, Summers, A M, Ionasescu, R, Searby, C
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683112/
https://ncbi.nlm.nih.gov/pubmed/1674639
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