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

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

Abstract 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 dispr...

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Bibliographic Details
Main Authors: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh
Format: Article
Language:English
Published: BMC 2017-09-01
Series:BMC Medical Genetics
Subjects:
Axial muscle atrophy
Myosin storage myopathy
MYH7
Stop loss mutation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0463-y

Internet

http://link.springer.com/article/10.1186/s12881-017-0463-y

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