PMID: 9631397Jun 19, 1998Paper

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Neuromuscular Disorders : NMD
H TopalogluP Guicheney

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.

References

Feb 1, 1989·American Journal of Medical Genetics·W B DobynsM Robinow
May 1, 1982·The Journal of Pediatrics·J B McMenaminE G Murphy
Jul 1, 1995·Neuromuscular Disorders : NMD·C A SewryV Dubowitz
May 1, 1995·Neuromuscular Disorders : NMD·S RantaA de la Chapelle
Oct 1, 1993·Journal of the Neurological Sciences·Y K HayashiK Arahata
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Feb 1, 1997·Annals of Neurology·M HaltiaP Santavuori
Mar 1, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·L NashefA H Schapira

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Citations

Aug 28, 2020·Frontiers in Molecular Neuroscience·Anna SarkozyFrancesco Muntoni
Aug 12, 2006·Journal of Child Neurology·Yousif K R HabeebAllie Moosa
Dec 11, 1999·Current Opinion in Neurology·C A Sewry, F Muntoni

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