Congenital muscular dystrophies.
Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it has been postulated that Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome (but not Finnish muscle-eye-brain disease) are genetically identical diseases.
Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
K
K
Arahata
H
H
Ishii
Y K
YK
Hayashi
D004195:Disease Models, Animal; D006801:Humans; D008279:Magnetic Resonance Imaging; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics / Q000473:pathology*