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Article

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

BMC neurology - 6 Oct 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 26444858
DOI: 10.1186/s12883-015-0449-3
PMCID: PMC4596355

Genes

DYSF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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