The first European family with tibial muscular dystrophy outside the Finnish population.
We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed late onset distal leg myopathy similar to the description of TMD. A molecular genetic study was made owing to the very recent TMD linkage findings on chromosome 2q31. All five clinically affected patients segregated a specific haplotype for the locus, whereas two unaffected patients had different haplotype. The results of this family without Finnish ancestors show that TMD exists outside the Finnish population.
de Seze
J
J
Department of Neurology, Hôpital R. Salengro, Lille, France.
Udd
B
B
Haravuori
H
H
Sablonnière
B
B
Maurage
C A
CA
Hurtevent
J F
JF
Boutry
N
N
Stojkovic
T
T
Schraen
S
S
Petit
H
H
Vermersch
P
P
D000368:Aged; D000369:Aged, 80 and over; D002889:Chromosomes, Human, Pair 2; D004576:Electromyography; D005192:Family Health; D005260:Female; D005387:Finland; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013977:Tibia