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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.

Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.[1]

References

  1. Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. Nashef, L., Lake, B.D., Schapira, A.H. J. Neurol. Neurosurg. Psychiatr. (1997) [Pubmed]
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