KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate

The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and conge...

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Detalles Bibliográficos
Autores principales: Avasthi, Kapil K., Agarwal, Sarita, Panigrahi, Inusha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935987/
https://www.ncbi.nlm.nih.gov/pubmed/31908664
http://dx.doi.org/10.4103/jpn.JPN_60_19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935987/
https://www.ncbi.nlm.nih.gov/pubmed/31908664
http://dx.doi.org/10.4103/jpn.JPN_60_19

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