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Research Article
Occidental type cerebromuscular dystrophy: a report of eleven cases.
  1. H Topaloğlu,
  2. K Yalaz,
  3. Y Renda,
  4. M Cağlar,
  5. S Göğüs,
  6. G Kale,
  7. K Gücüyener,
  8. G Nurlu
  1. Hacettepe University, Children's Hospital, Ankara, Turkey.

    Abstract

    Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle involvement, normal or nearly normal intelligence, leukodystrophic appearance on CT scan, and dystrophic changes in muscle.

    https://doi.org/10.1136/jnnp.54.3.226

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