Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
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ABSTRACT:
SUBMITTER: Petersen JA
PROVIDER: S-EPMC4596355 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
Petersen Jens A JA Kuntzer Thierry T Fischer Dirk D von der Hagen Maja M Huebner Angela A Kana Veronika V Lobrinus Johannes A JA Kress Wolfram W Rushing Elisabeth J EJ Sinnreich Michael M Jung Hans H HH
BMC neurology 20151006
<h4>Background</h4>Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.<h4>Methods</h4>We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.<h4>Results</h4>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 ...[more]
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