Article
Welander distal myopathy outside the Swedish population: phenotype and genotype.
Neuromuscular disorders : NMD - 1 Aug 2002
von Tell Désirée, Somer Hannu, Udd Bjarne, Edström Lars, Borg Kristian, Ahlberg Gabrielle
Abstract excerpt
Welander distal myopathy is a late onset disorder that is mainly seen in Sweden. It is linked to chromosome 2p13 and all Swedish patients show a common shared haplotype, indicating a founder mutation. Here we report the clinical manifestations, magnetic resonance imaging, pathophysiology and haplotype analysis of Welander patients in the Finnish population. The clinical examination of patients from 12 different...
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