Congenital X-Linked Autophagic Vacuolar Myopathy

Abstract

A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affecting 7 boys is reported from the National Center of Neurology and Psychiatry, Kodaira, Tokyo, and Utano National Hospital, Kyoto, Japan; and Shandong University, Jinan, China.

Keywords

• x-linked congenital autophagic vacuolar myopathy
• left ventricular hypertrophy
• fibrillation potentials