In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or thirties. Weakness slowly progressed to involve all extremities and eventually ...

They showed symmetrical, non-selective proximal and distal weakness in lower and upper limbs, with velopharyngeal involvement, clinical and/or electrical signs of hypertrophic cardiomyopathy and ...

Gottron’s papules, which are hypertrophied calloused-looking plaques, may occur over the metacarpophalangeal joints (MCPs) and proximal interphalangeal joints (PIPs). Mechanics hands refers to ...