[Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia].

@article{Ribeiro2003MerosinpositiveCM,
  title={[Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia].},
  author={Valentina T Ribeiro and Nuno Maria Canto Moreira and Jo{\~a}o B Teixeira and Ant{\'o}nio Guimar{\~a}es and Romeu Cruz and Lopes Lima},
  journal={Acta medica portuguesa},
  year={2003},
  volume={16 3},
  pages={189-92}
}
Congenital muscular dystrophy (CMD) is one of the most frequent dystrophies of childhood, which is commonly characterized by neonatal muscle impairment with or without clinical evidence of central nervous system involvement. CMDs were classified into five clinically distinct forms: the two classical CMDs with and without deficit of the a2 laminin chain (merosin) caused by mutations on chromosome 6q2, the Fukuyama CMD (severe form, initially described in Japanese patients and recently linked to… CONTINUE READING