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...

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Detalles Bibliográficos
Autores principales: Negrão, Luís, Machado, Rita, Lourenço, Miguel, Fernandez-Marmiesse, Ana, Rebelo, Olinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315894/
https://www.ncbi.nlm.nih.gov/pubmed/32607476
http://dx.doi.org/10.36185/2532-1900-004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315894/
https://www.ncbi.nlm.nih.gov/pubmed/32607476
http://dx.doi.org/10.36185/2532-1900-004

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