title: A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
abstract: The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of alpha-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan.
authors.affiliation: Department of Medical Biology, Hacettepe University, Ankara, Turkey.
authors.forename: Pervin
authors.initials: P
authors.lastname: Dinçer
authors.forename: Burcu
authors.initials: B
authors.lastname: Balci
authors.forename: Yeliz
authors.initials: Y
authors.lastname: Yuva
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.forename: Martin
authors.initials: M
authors.lastname: Brockington
authors.forename: Deniz
authors.initials: D
authors.lastname: Dinçel
authors.forename: Silvia
authors.initials: S
authors.lastname: Torelli
authors.forename: Sue
authors.initials: S
authors.lastname: Brown
authors.forename: Gülsev
authors.initials: G
authors.lastname: Kale
authors.forename: Göknur
authors.initials: G
authors.lastname: Haliloglu
authors.forename: Filiz Ozbas
authors.initials: FO
authors.lastname: Gerçeker
authors.forename: Rengül Cetin
authors.initials: RC
authors.lastname: Atalay
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakicier
authors.forename: Cheryl
authors.initials: C
authors.lastname: Longman
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D049030:Dystroglycans; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D009124:Muscle Proteins; D049030:Dystroglycans