title: Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.
abstract: 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Weiler
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: E
authors.initials: E
authors.lastname: Nylen
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: T M
authors.initials: TM
authors.lastname: Fujiwara
authors.forename: M J
authors.initials: MJ
authors.lastname: Crumley
authors.forename: T
authors.initials: T
authors.lastname: Zelinski
authors.forename: W
authors.initials: W
authors.lastname: Halliday
authors.forename: B
authors.initials: B
authors.lastname: Nickel
authors.forename: B
authors.initials: B
authors.lastname: Triggs-Raine
authors.forename: K
authors.initials: K
authors.lastname: Wrogemann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008350:Manitoba; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree