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J Med Genet 2000;37:361-367 ( May )

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

Pervin Dinçera, Zuhal Akçörenb, Ercan Demirc, Isabelle Richardd, Özgür Sancaka, Gülsev Kaleb, Şencan Özmee, Ayse Karadumanc, Ersin Tanf, J Andoni Urtizbereag, Jacques S Beckmannd, Haluk Topalogluc

a Department of Medical Biology, Hacettepe University Medical School, 06100 Ankara, Turkey, b Department of Paediatric Pathology, Hacettepe University Medical School, 06100 Ankara, Turkey, c Department of Paediatric Neurology, Hacettepe University Medical School, 06100 Ankara, Turkey, d Genethon, 1 rue de l'Internationale, 91002 Evry Cedex, France, e Department of Paediatric Cardiology, Hacettepe University Medical School, 06100 Ankara, Turkey, f Department of Neurology, Hacettepe University Medical School, 06100 Ankara, Turkey, g Institute de Myologie - AFM7, Groupe Hospitalier Pitié-Salpetriére, 47-83 Boulevard de l'Hopital, 75651 Paris Cedex 13, France

Correspondence to: Dr Topaloglu, National Institutes of Health, NINDS, DMNB, Building 10, Room 3D 03, 10 Center Drive, Bethesda, MD 20892-1260, USA, htopalog{at}codon.nih.gov

Revised version received 1 December 1999; Accepted for publication 14 December 1999

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 11/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha  sarcoglycan deficiency 2, beta  sarcoglycan deficiency 7, gamma  sarcoglycan deficiency 5, delta  sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans.
gamma sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary gamma  sarcoglycan deficiency showed normal or only mildly abnormal delta  sarcoglycan staining.


Keywords: limb-girdle muscular dystrophy; genetic linkage analysis; sarcolemmal complex proteins

© 2000 by J Med Genet




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