LATE ONSET ADULT CENTRONUCLEAR MYOPATHY – A CASE REPORT

Abstract

Centronuclear myopathies are a heterogeneous group of inherited neuromuscular disorders. They are described as congenital myopathies, characterized by abundant central nuclei in muscle biopsy. The main forms of centronuclear myopathies recognized based on clinical presentation and genetic characteristics are the x-linked form, with sever perinatal myopathy, the recessive autosomal form, presenting with severe to moderate infantile myopathy, and the dominant autosomal form, with moderate to mild adult myopathy. We present here a case of late onset adult centronuclear myopathy, emphasizing in the neurophysiological and mainly histological diagnostic approaches used.