Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory involvement. The clinical severity is largely explained by genotype (DNM2, MTM1, RYR1, BIN1, TTN, and other rarer genetic backgrounds),...

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Detalles Bibliográficos
Autores principales: Reumers, Stacha F. I., Erasmus, Corrie E., Bouman, Karlijn, Pennings, Maartje, Schouten, Meyke, Kusters, Benno, Duijkers, Floor A. M., van der Kooi, Anneke, Jaeger, Bregje, Verschuuren‐Bemelmans, Corien C., Faber, Catharina G., van Engelen, Baziel G., Kamsteeg, Erik‐Jan, Jungbluth, Heinz, Voermans, Nicol C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292987/
https://www.ncbi.nlm.nih.gov/pubmed/34463354
http://dx.doi.org/10.1111/cge.14054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292987/
https://www.ncbi.nlm.nih.gov/pubmed/34463354
http://dx.doi.org/10.1111/cge.14054

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