The first European family with tibial muscular dystrophy outside the Finnish population

Citation
J. De Seze et al., The first European family with tibial muscular dystrophy outside the Finnish population, NEUROLOGY, 51(6), 1998, pp. 1746-1748
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
51
Issue
6
Year of publication
1998
Pages
1746 - 1748
Database
ISI
SICI code
0028-3878(199812)51:6<1746:TFEFWT>2.0.ZU;2-3
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 m ade owing to the very recent TMD linkage findings on chromosome 2q31. All f ive clinically affected patients segregated a specific haplotype for the lo cus, whereas two unaffected patients had different haplotype. The results o f this family without Finnish ancestors show that TMD exists outside the Fi nnish population.