id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_7qxsnupuyzdhnex2x2llmw5tku	F Duclos	β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate	1998.0	9	.pdf	application/pdf	6605	592	62	The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular dystrophies (LGMD2C–F). missense mutation (T151R) in the b-sarcoglycan gene on chromosome 4q12 has been shown to cause a mild form of LGMD2E in 11 analysis of all the components of the dystrophin-glycoprotein complex was performed for the first time on a biopsy from a patient extensive analysis of 36 kb of genomic sequences overlapping the b-sarcoglycan gene on chromosome 4q12. various predictive algorithms, we analyzed the entire genomic sequence and detected two putative exons that could be Exon-intron organization of the b-sarcoglycan gene corresponding to the cDNA b-Sarcoglycan gene mutations in the LGMD2E Amish The expression level of dystrophin, b-dystroglycan, and the laminin a2 chain in the Amish patient Patient screening for b-sarcoglycan gene mutations mutation in the sporadic case T044 was not determined despite the analysis of the whole coding sequence of the b-sarcoglycan gene.	./cache/work_7qxsnupuyzdhnex2x2llmw5tku.pdf	./txt/work_7qxsnupuyzdhnex2x2llmw5tku.txt