Article
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Neuromuscular disorders : NMD - 1 Dec 2012
Cullup T, Lamont P J, Cirak S, Damian M S, Wallefeld W, Gooding R, Tan S V, Sheehan J, Muntoni F, Abbs S, Sewry C A, Dubowitz V, Laing N G, Jungbluth H
Abstract excerpt
Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. A proportion of cases remain unresolved. Mutations in MYH7 encoding the beta myosin heavy chain protein have been implicated in cardiac and, less frequently, skeletal muscle disorders. Here we report...
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