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Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci

✍ Scribed by Weiler, Tracey; Greenberg, Cheryl R.; Nylen, Edward; Morgan, Kenneth; Fujiwara, T. Mary; Crumley, M. Joyce; Zelinski, Teresa; Halliday, William; Nickel, Barbara; Triggs-Raine, Barbara; Wrogemann, Klaus


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
45 KB
Volume
72
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971031)72:3<363::aid-ajmg22>3.0.co;2-q

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✦ Synopsis


Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197-202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two-point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of < or = -2 at theta = 0.01 in all cases and in most cases at theta = 0.05. This suggests that there is at least 1 additional locus for LGMD.


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