Novel MPZ mutations and congenital hypomyelinating neuropathy

We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve bi...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: McMillan, Hugh J., Santagata, Sandro, Shapiro, Frederic, Batish, Sat Dev, Couchon, Libby, Donnelly, Stephen, Kang, Peter B.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2952650/
https://ncbi.nlm.nih.gov/pubmed/20621479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.06.004
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares