Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
- Zsolt Bánfai,
- Kinga Hadzsiev,
- Endre Pál,
- Katalin Komlósi,
- Márton Melegh,
- László Balikó,
- Béla Melegh
BMC Med Genet 2017 Sep 19;18(1):105. Epub 2017 Sep 19.
Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.
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, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. Read More