title: The first European family with tibial muscular dystrophy outside the Finnish population.
abstract: 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.
authors.affiliation: Department of Neurology, Hôpital R. Salengro, Lille, France.
authors.forename: J
authors.initials: J
authors.lastname: de Seze
authors.forename: B
authors.initials: B
authors.lastname: Udd
authors.forename: H
authors.initials: H
authors.lastname: Haravuori
authors.forename: B
authors.initials: B
authors.lastname: Sablonnière
authors.forename: C A
authors.initials: CA
authors.lastname: Maurage
authors.forename: J F
authors.initials: JF
authors.lastname: Hurtevent
authors.forename: N
authors.initials: N
authors.lastname: Boutry
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
authors.forename: S
authors.initials: S
authors.lastname: Schraen
authors.forename: H
authors.initials: H
authors.lastname: Petit
authors.forename: P
authors.initials: P
authors.lastname: Vermersch
mesh_terms: 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