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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Ionasescu, V V, Trofatter, J, Haines, J L, Summers, A M, Ionasescu, R, Searby, C
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683112/
https://ncbi.nlm.nih.gov/pubmed/1674639
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki