Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.
Facioscapulohumeral muscular dystrophy (FSH) is an autosomal dominant condition with variable expressivity and age dependent penetrance. Linkage studies still did not exclude regions 11, 2q, 6q, 7p, 8p, 10q, 12p and 14p as possible locations for the FSH gene. In the present study we have analysed 80 individuals (36 patients and 44 normals) belonging to 8 unrelated Brazilian families with 3 probes located on the long arm of chromosome 6:MHB(6q22-q23), ESR(6q24-q27) and TCP1(6q25-q27). Results of linkage analysis suggest that the gene responsible for FSH muscular dystrophy is not in the region 6q23-q27.
Passos-Bueno
M R
MR
Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil.
Byth
B
B
Love
D
D
Terwilliger
J
J
Ott
J
J
Rapaport
D
D
Vainzof
M
M
Zatz
M
M
Davies
K E
KE
D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics*; D010375:Pedigree