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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Detalhes bibliográficos
Publicado no:J Neuromuscul Dis
Main Authors: Malfatti, Edoardo, Böhm, Johann, Lacène, Emmanuelle, Beuvin, Maud, Guy Brochier, Romero, Norma B., Laporte, Jocelyn
Formato: Artigo
Idioma:Inglês
Publicado em: IOS Press 2015
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240573/
https://ncbi.nlm.nih.gov/pubmed/27858739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150085
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