Congenital muscular dystrophy.

Abstract

Defect: Type of CMD: Extracellular matrix protein defects: • Laminin-alpha2-deficient CMD (MDC1A) • Ullrich CMD (UCMD 1, 2, 3) Integrin-alpha7 deficiency (ITGA7) Glycosyltransferases (abnormal Oglycosation of alpha-dystroglycan) • Walker-Warburg syndrome • MEB disease • Fukuyama CMD (FCMD) • CMD + secondary laminin deficiency 1 (MDC1B) • CMD + secondary laminin deficiency 2 (fukitin related protein deficiency, MDC1C) • CMD with mental retardation and pachygyria (mutation in LARGE, MDC1D) Proteins of the endoplasmic reticulum – rigid-spine syndrome (RSMD1)