| Literature DB >> 9855539 |
J de Seze1, B Udd, H Haravuori, B Sablonnière, C A Maurage, J F Hurtevent, N Boutry, T Stojkovic, S Schraen, H Petit, P Vermersch.
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.Entities:
Mesh:
Year: 1998 PMID: 9855539 DOI: 10.1212/wnl.51.6.1746
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910