A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

BACKGROUND: Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Le...

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Detalles Bibliográficos
Autores principales: Engeholm, Maik, Sekler, Julia, Schöndorf, David C, Arora, Vineet, Schittenhelm, Jens, Biskup, Saskia, Schell, Caroline, Gasser, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060843/
https://www.ncbi.nlm.nih.gov/pubmed/24894446
http://dx.doi.org/10.1186/1471-2377-14-118

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