[Miyoshi distal muscular dystrophy].
Miyoshi distal muscular dystrophy (MDMD) is a young-adult-onset, autosomal recessive inherited dystrophy initially affecting the plantar flexers. We analysed 12 MDMD families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map MDMD gene. A significant lod score was obtained with the 2p13 locus D2S291 (Zmax = 15.3 at theta = 0). A gene for autosomal recessive limb-girdle muscular dystrophy 2B (LGMD2B) was also mapped 2p13. The onset was in the late teens with weakness and wasting of the pelvic girdle muscles. Now we cannot exclude the possibility that the cause of these diseases are allelic variants in the same gene. YAC contig of the region was constructed. Scleening for muscle genes in the MDMD region is under way.
Hirabayashi
K
K
Department of Neurology, Tokyo Metropolitan Ebara Hospital.
D000483:Alleles; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid