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

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. Scapulop...