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Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report

Charcot Marie Tooth (CMT) is a heterogeneous group of genetic disorders characterized by progressive motor and sensory neuropathy. CMT is a multi-gene disorder with several possible mutations responsible for a wide range of clinical presentations. A specific mutation of the ganglioside-induced-diffe...

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Detalles Bibliográficos
Autores principales:	Rodriguez-Hernandez, Adrian, Mayo, Meagan, Jauregui, Lilibeth, Patel, Pooja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637907/ https://www.ncbi.nlm.nih.gov/pubmed/36353131 http://dx.doi.org/10.3389/fneur.2022.905725

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