title: The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy which presents typically after the age of 50 with progressive eyelid drooping and an increasing difficulty in swallowing. Though OPMD has a world-wide incidence, it is more common in the French Canadian population. We have identified a homogeneous group of families and studied 166 polymorphic markers as part of a genome search before establishing linkage to chromosome 14. We determined that the OPMD locus maps to a less than 5 cM region of chromosome 14q11.2-q13. The maximum two-point lod score in three French Canadian families of 14.73 (theta = 0.03) was obtained for an intronic cardiac beta myosin heavy chain gene (MYH7) marker. The regional localization for the OPMD locus raises the intriguing possibility that either the cardiac alpha or beta myosin heavy chain genes may play a role in this disease.
authors.affiliation: Centre for Research in Neurosciences, McGill University, Montréal, Québec, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Brais
authors.forename: Y G
authors.initials: YG
authors.lastname: Xie
authors.forename: M
authors.initials: M
authors.lastname: Sanson
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: S C
authors.initials: SC
authors.lastname: Blumen
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: J P
authors.initials: JP
authors.lastname: Bouchard
mesh_terms: D001483:Base Sequence; D001763:Blepharoptosis / Q000235:genetics*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic; D044465:White People
chemical_list: D005819:Genetic Markers; D009218:Myosins