Mutations in MYH7 cause a wide range of cardiac and skeletal muscle diseases, including both dilated and hypertrophic cardiomyopathy (MIM 613426, MIM192600), left ventricular non-compaction (MIM 613426), dominant and recessive myosin storage myopathy (MSM, MIM 608358, MIM 255160), Laing distal myopathy (MIM 160500), scapuloperoneal myopathy (MIM 181430) [1,2], and subgroups of congenital myopathies with characteristic histopathological features such as multi-minicores [3] and myofiber type disproportion with small type I myofibers [4].

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