AI Article Synopsis
- - The study discusses severe brain abnormalities typically seen in congenital muscular dystrophy (CMD) types, but highlights that the classification of CMD is still incomplete.
- - Researchers reported on two siblings from the same family who have partial merosin deficiency, severe mental retardation, and normal brain MRI scans, suggesting a possible new type of CMD.
- - The condition was found to be unrelated to known genetic markers like the LAMA2 gene or Fukuyama CMD, indicating potential unclassified forms of CMD exist.
Article Abstract
The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.
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| http://dx.doi.org/10.1016/s0960-8966(98)00013-3 | DOI Listing |
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