Nemaline Myopathy: Clinical Study

Abstract

Clinical and genetic characteristics, prognostic risk factors, and classification of nemaline myopathy (NM) are examined in a study of 143 cases identified at two centers in Australia and North America and reported from the Neurogenetics Research Unit, University of Sydney, Australia; Children’s Hospital, Boston; and other centers.

Keywords

• nernaline myopathy
• arthrogryposis multiplex congenita
• neonatal hypotonia