Article
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.
Neuromuscular disorders : NMD - 1 Oct 2002
Voit Th, Parano E, Straub V, Schröder J M, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R
Abstract excerpt
At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf...
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