A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy.
A dominantly inherited muscular dystrophy with onset in the shoulder girdle and later progression to the lower limbs is described. The disorder was clinically distinguishable from known facioscapulohumeral, scapulohumeral and limb girdle syndromes. A 38 kb allele detected by probe p13E-11 (D4F104S1) segregated with the disease. Linkage analysis gave a maximum lod score of z = 1.61 at theta = 0.01 with the 4q35 markers D4S184 (affected only analysis z = 1.20 at theta = 0.01) suggesting probable allelism with facioscapulohumeral muscular dystrophy.
Jardine
P E
PE
Institute of Child Health, Bristol, U.K.
Upadhyaya
M
M
Maynard
J
J
Harper
P
P
Lunt
P W
PW
D000293:Adolescent; D000328:Adult; D000483:Alleles; D003402:Creatine Kinase / Q000235:genetics; D004247:DNA / Q000378:metabolism; D008040:Genetic Linkage; D016678:Genome; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
D004247:DNA; D003402:Creatine Kinase