Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation

Congenital myopathies are a group of genetic muscle disorders characterized by muscle weakness and hypotonia that are usually present at birth. They are histologically classified into nemaline myopathy (NM), core myopathy, centronuclear myopathy, congenital fiber type disproportion (CFTD) and other conditions. CFTD is histologically characterized by the absence of diagnostic histological features, except for common findings of type 1 fiber predominance and fiber size disproportion. Several causative genes, including nebulin (NEB), actin, alpha 1, skeletal muscle (ACTA1), tropomyosin 3 (TPM3), and ryanodine receptor 1 (RYR1) have been reported for congenital myopathies including CFTD.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research