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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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5606036/
https://ncbi.nlm.nih.gov/pubmed/28927399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0463-y
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