A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Background: Nemaline myopathies (NM) are rare and severe muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis. Objective: Here we d...

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Detalles Bibliográficos
Autores principales: Malfatti, Edoardo, Böhm, Johann, Lacène, Emmanuelle, Beuvin, Maud, Guy Brochier, Romero, Norma B., Laporte, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240573/
https://www.ncbi.nlm.nih.gov/pubmed/27858739
http://dx.doi.org/10.3233/JND-150085

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