Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.
Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show non-linkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.
Linssen
W H
WH
Department of Neurology, St. Lucas Andreas Hospital, Amsterdam, The Netherlands.
de Visser
M
M
Notermans
N C
NC
Vreyling
J P
JP
Van Doorn
P A
PA
Wokke
J H
JH
Baas
F
F
Bolhuis
P A
PA
D000328:Adult; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree