title: Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.
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.
authors.affiliation: Department of Child Neurology Hacettepe University Children's Hosptial, Ankara, Turkey. htopalogggenetic.gen.hun.edu.tr
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: B
authors.initials: B
authors.lastname: Talim
authors.forename: N
authors.initials: N
authors.lastname: Vignier
authors.forename: A H
authors.initials: AH
authors.lastname: Helbling-Leclerc
authors.forename: M
authors.initials: M
authors.lastname: Yetük
authors.forename: I E
authors.initials: IE
authors.lastname: Afşin
authors.forename: M
authors.initials: M
authors.lastname: Cağlar
authors.forename: G
authors.initials: G
authors.lastname: Kale
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000150:complications*; D007797:Laminin / Q000172:deficiency* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital / Q000235:genetics / Q000378:metabolism*; D010375:Pedigree; D012016:Reference Values
chemical_list: D007797:Laminin