Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Petersen, Jens A; Kuntzer, Thierry; Fischer, Dirk; von der Hagen, Maja; Huebner, Angela; Kana, Veronika; Lobrinus, Johannes Alexander; Kress, Wolfram; Rushing, Elisabeth J; Sinnreich, Michael; Jung, Hans H

doi:10.1186/s12883-015-0449-3

Scientific article

English

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

ContributorsPetersen, Jens A; Kuntzer, Thierry; Fischer, Dirk; von der Hagen, Maja; Huebner, Angela; Kana, Veronika; Lobrinus, Johannes Alexander; Kress, Wolfram; Rushing, Elisabeth J; Sinnreich, Michael; Jung, Hans H

Published inBMC neurology, vol. 15, 182

Publication date2015

Abstract

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

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de pathologie et immunologie

Research groups

Métastases du foie (657)

Citation (ISO format)

PETERSEN, Jens A et al. Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. In: BMC neurology, 2015, vol. 15, p. 182. doi: 10.1186/s12883-015-0449-3

Article (Accepted version)

CC BY

Identifiers

PID : unige:83967
DOI : 10.1186/s12883-015-0449-3
PMID : 26444858

Journal ISSN1471-2377

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Creation26/01/2016 10:49:00

First validation26/01/2016 10:49:00

Update time15/03/2023 00:23:02

Status update15/03/2023 00:23:02

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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

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

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