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

• Main Authors: Zsolt Bánfai (Author), Kinga Hadzsiev (Author), Endre Pál (Author), Katalin Komlósi (Author), Márton Melegh (Author), László Balikó (Author), Béla Melegh (Author)
• Format: Book
• Published: BMC, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...