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A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.