Welander distal myopathy outside the Swedish population: phenotype and genotype.
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 families showed a distal myopathy with onset in the long extensor muscles of the hands and fingers, also seen in Swedish Welander patients. Muscle biopsies showed characteristic myopathic changes. Haplotype analysis with the five polymorphic markers that make up the common core haplotype, seen in the Swedish patients, revealed that this haplotype is also co-segregating in the Finnish patients and a common ancestry is therefore further supported for patients with Welander distal myopathy.
von Tell
Désirée
D
Department of Clinical Neuroscience, CMM L8:02, Karolinska Hospital, Stockholm, Sweden. von.tell@cmm.ki.se
Somer
Hannu
H
Udd
Bjarne
B
Edström
Lars
L
Borg
Kristian
K
Ahlberg
Gabrielle
G
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D005260:Female; D005387:Finland / Q000453:epidemiology; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013548:Sweden / Q000453:epidemiology