An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving f...

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Detalles Bibliográficos
Autores principales: Ohara, Masahiro, Saito, Yoshihiko, Watanabe, Mutsufusa, Mizutani, Saneyuki, Kobayashi, Masaki, Iida, Aritoshi, Nishino, Ichizo, Fujigasaki, Hiroto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479285/
https://www.ncbi.nlm.nih.gov/pubmed/32939402
http://dx.doi.org/10.1016/j.ensci.2020.100268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479285/
https://www.ncbi.nlm.nih.gov/pubmed/32939402
http://dx.doi.org/10.1016/j.ensci.2020.100268

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