Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Abstract

Congenital myopathies are a heterogenous group of inherited disorders with onset in childhood. Clinically these disorders are characterised by reduced muscle bulk, varying degrees of weakness and usually slow progression. Most congenital myopathies display a striking histomorphological abnormality that defines the condition, like nemaline rods in nemaline myopathy.