Key result
All five clinically affected patients in a non-Finnish European family segregated a specific haplotype for the tibial muscular dystrophy locus on chromosome 2q31.
Case Report (n=7)
This study provides the first evidence that tibial muscular dystrophy (TMD) exists in European populations outside of Finland.
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Reports first non-Finnish European TMD family with 2q31 linkage; extends locus but leaves broader applicability open.
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.
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Seze et al. (1998) conducted a case report in Tibial muscular dystrophy (n=7). Chromosome 2q31 haplotype vs. Unaffected family members was evaluated on Segregation of a specific haplotype for the TMD locus. All five clinically affected patients in a non-Finnish European family segregated a specific haplotype for the tibial muscular dystrophy locus on chromosome 2q31.
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