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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Vydáno v:	BMC medical genetics Ročník 18; číslo 1; s. 105 - 7
Hlavní autoři:	Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 19.09.2017 BioMed Central Ltd BMC
Témata:	Age Amino acids Axial muscle atrophy Bioinformatics Biomedical and Life Sciences Biomedicine Biopsy Cardiac Myosins - genetics Cardiomyopathy Case Report Case reports Clinical-Molecular Genetics and Cytogenetics Cytogenetics Defects Distal Myopathies - diagnostic imaging Distal Myopathies - genetics Elongation Family medical history Gene Function Gene mutations Genetic counseling Genetic Predisposition to Disease Genetic Variation Human Genetics Humans Kinases Light Male Middle Aged Muscle, Skeletal - pathology Muscles Muscular Diseases - congenital Muscular Diseases - diagnostic imaging Muscular Diseases - genetics Musculoskeletal system Mutation MYH7 MYH7 gene Myopathies, Structural, Congenital - diagnostic imaging Myopathies, Structural, Congenital - genetics Myopathy Myosin Myosin Heavy Chains - genetics Myosin storage myopathy Neck Ophthalmoplegia - diagnostic imaging Ophthalmoplegia - genetics Phenotype Physiology Proteins Ryanodine Receptor Calcium Release Channel - deficiency Ryanodine Receptor Calcium Release Channel - genetics Stop loss mutation Stop loss mutation Myosin storage myopathy Case report Axial muscle atrophy MYH7
ISSN:	1471-2350, 1471-2350
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