Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BACKGROUND: Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion...

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Detalles Bibliográficos
Autores principales: Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606036/
https://www.ncbi.nlm.nih.gov/pubmed/28927399
http://dx.doi.org/10.1186/s12881-017-0463-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606036/
https://www.ncbi.nlm.nih.gov/pubmed/28927399
http://dx.doi.org/10.1186/s12881-017-0463-y

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