Abstract
D’Amico et al. report three children with POMP1 mutations who had congenital muscular dystrophy, microcephaly, and mental retardation but neither the brain nor ocular malformations characteristic of Walker-Warburg syndrome. see page 1564 Commentary by Hanns Lochmuller, MD Muscular dystrophies characteristically affect skeletal and cardiac muscle, leaving other organs and functions intact. Therefore, patients with muscular dystrophy take part in social, academic, and occupational …
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