Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

BACKGROUND: Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrictive cardiomyopathy. Autosomal recessive MYPN mutations hav...

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Detalles Bibliográficos
Autores principales: Merlini, Luciano, Sabatelli, Patrizia, Antoniel, Manuela, Carinci, Valeria, Niro, Fabio, Monetti, Giuseppe, Torella, Annalaura, Giugliano, Teresa, Faldini, Cesare, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535860/
https://www.ncbi.nlm.nih.gov/pubmed/31133047
http://dx.doi.org/10.1186/s13395-019-0199-9

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