Identified a cingulate muscular dystrophy and myopathy with movement disorders and mental retardation caused by mutations in TRAPPC11

The authors of this study identified recessive mutations in the transport protein complex (TRAPPC11) in three individuals from a consanguineous Syrian family who presented with cingulate muscular dystrophy, and in five individuals of Hutterite descent who presented with myopathy, hyperkinetic infantile movements, ataxia, and mental retardation