The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

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 p...

Full description

Saved in:
Bibliographic Details
Published in:Human molecular genetics 1995-03, Vol.4 (3), p.429-434
Main Authors: Brais, Bernard, Xie, Ya-Gang, Sanson, Marc, Morgan, Kenneth, Weissenbach, Jean, Korczyn, Amos D., Blumen, Sergiu C., Fardeau, Michel, Tomé, Fernando M.S., Bouchard, Jean-Pierre, Rouleau, Guy A.
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Blepharoptosis - genetics
chromosome 14
Chromosome Mapping
Chromosomes, Human, Pair 14
Deglutition Disorders - genetics
Diseases of striated muscles. Neuromuscular diseases
European Continental Ancestry Group
Female
gene mapping
Genetic Linkage
Genetic Markers
Haplotypes
heart
Humans
Inclusion Bodies - ultrastructure
Male
man
Medical sciences
Molecular Sequence Data
Muscle, Skeletal - pathology
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
MYH7 gene
myosin
Myosins - genetics
Neurology
oculopharyngeal muscular dystrophy
OPMD locus
Pedigree
Recombination, Genetic
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 (θ = 0.03) was obtained for an intronic cardiac β myosin heavy chain gene (MYH7) marker. The regional localization for the OPMD locus raises the intriguing possibility that either the cardiac α or β myosin heavy chain genes may play a role in this disease
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.3.429