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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

OBJECTIVES—To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype.
METHODS—In an Algerian patient with autosomal r...

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Detalhes bibliográficos
Main Authors: Gabreels-Festen, A., van Beersum, S., Eshuis, L., LeGuern, E., Gabreels, F., van Engelen, B., Mariman, E.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736348/
https://ncbi.nlm.nih.gov/pubmed/10209165
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