Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
Materias:
Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180267/
https://ncbi.nlm.nih.gov/pubmed/12687498
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares