A carregar...

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phe...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Acta Myol
Main Authors: Negrão, Luís, Machado, Rita, Lourenço, Miguel, Fernandez-Marmiesse, Ana, Rebelo, Olinda
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore Srl 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7315894/
https://ncbi.nlm.nih.gov/pubmed/32607476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-004
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!