Congenital Muscular Dystrophy / Rigid Spine Syndrome

Abstract

A detailed phenotypic description of 4 siblings (3 boys and 1 girl) with congenital muscular dystrophy and rigid spine syndrome is reported from the University of Utah, Salt Lake City, UT.

Keywords

• congenital muscular dystrophy/rigid spine syndrome
• dystrophin-glycoprotein
• widespread muscle abnormalities