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Neurology|March 17, 2000
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutationL Merlini, J C Kaplan, C Navarro, et al.Journal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.Neurology|May 1, 1997
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophyB Eymard, N B Romero, F Leturcq, et al.Journal of Medical Genetics|April 16, 1998
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyP Guicheney, N Vignier, X Zhang, et al.Neurology|June 16, 2005
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathyS Lucioli, B Giusti, E Mercuri, et al.American Journal of Human Genetics|May 1, 1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsI Richard, L Brenguier, P Dinçer, et al.Neuromuscular Disorders : NMD|December 1, 1996
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophiesJ S Beckmann, I Richard, O Broux, et al.Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.Brain : a Journal of Neurology|February 4, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Sáenz, F Leturcq, A M Cobo, et al.Pageof 18