id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_tg2bd5c5tzbe7o6mtjvhehpcw4	V.M. Pratt	DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene	1997.0	3	.pdf	application/pdf	2454	193	61	mutations, including missense, splice-site, frameshift,(1986) Molecular genetics of inherited variation in human This hypothesis does not require theRobinson WP, Lalande M (1995) Sex-specific meiotic recompresence of multiple mutations, since the genetic princi-bination in the Prader-Willi/Angelman syndrome imprinted Hum Mol Genet 4:801 – 806 ples of digenic inheritance should apply to all populaRossiter JP, Young M, Kimberland ML, Hutter P, Ketterling tions with LGMD caused by calpain-3 mutations. RP, Gitschier J, Horst J, et al (1994) Factor VIII gene inverIn the Amish of northern Indiana, Richard et al. the presence of the R769Q mutation, looking for eviDNA Studies of Limb-Girdle Muscular Dystrophy dence of phenotypically normal R769Q homozygotes. members of 16 previously studied nuclear LGMD2ALimb-girdle muscular dystrophy type 2A (LGMD2A) is Indiana Amish population, nor do they exclude the possibility of a second locus for digenic inheritance in the Am J Hum Genet 58:241 – 243posure to mutagens) or endogenous (unequal distribution of mutator genes) factors.	./cache/work_tg2bd5c5tzbe7o6mtjvhehpcw4.pdf	./txt/work_tg2bd5c5tzbe7o6mtjvhehpcw4.txt