Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.
Speer
M C
MC
Division of Neurology, Duke University Medical Center, Durham, NC 27710.
Yamaoka
L H
LH
Gilchrist
J H
JH
Gaskell
C P
CP
Stajich
J M
JM
Vance
J M
JM
Kazantsev
A
A
Lastra
A A
AA
Haynes
C S
CS
Beckmann
J S
JS
D002461:Cell Line, Transformed; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers; D004247:DNA