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

Neurology. 1998 Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 2*
  • Electromyography
  • Family Health*
  • Female
  • Finland
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Tibia