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Fig. 1 | BMC Neurology

Fig. 1

From: Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Fig. 1

Haplotype Analysis. Haplotype analysis using six microsatellite markers flanking the DYSF gene in families C and D. The DYSF gene is located between markers D2S292 and D2S291. In all patients carrying the homozygous c.3031 + 2T>C mutation, the adjacent marker D2S291 also shows a homozygous genotype (allele 178) suggesting that this mutation may be a founder mutation in these two families. Accordingly, in patient C-6 carrying a compound heterozygous DYSF mutation (c.3031 + 2T>C and c.2869C>T), the marker D2S291 shows a heterozygous genotype (278–290)

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