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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ionasescu, V V, Trofatter, J, Haines, J L, Summers, A M, Ionasescu, R, Searby, C
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1991
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683112/
https://ncbi.nlm.nih.gov/pubmed/1674639
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