Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

ABSTRACT:

Background

Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.

Methods

We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.

Results

Thirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2 T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations

SUBMITTER: Petersen JA 

PROVIDER: S-EPMC4596355 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature