A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
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.
Dinçer
Pervin
P
Department of Medical Biology, Hacettepe University, Ankara, Turkey.
Balci
Burcu
B
Yuva
Yeliz
Y
Talim
Beril
B
Brockington
Martin
M
Dinçel
Deniz
D
Torelli
Silvia
S
Brown
Sue
S
Kale
Gülsev
G
Haliloglu
Göknur
G
Gerçeker
Filiz Ozbas
FO
Atalay
Rengül Cetin
RC
Yakicier
Cengiz
C
Longman
Cheryl
C
Muntoni
Francesco
F
Topaloglu
Haluk
H
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
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D009124:Muscle Proteins; D049030:Dystroglycans