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Article

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

Muscle & nerve - 1 May 2013

Nilsson Mats I, Laureano Marissa L, Saeed Munim, Tarnopolsky Mark A

Abstract excerpt

INTRODUCTION: Diagnosis of the limb-girdle muscular dystrophies (LGMDs) has been facilitated by the use of immunofluorescence microscopy, Western blot analysis, and rapid genetic testing. METHODS: We identified 7 patients with LGMD2B or Miyoshi myopathy (MM) phenotypes and performed detailed history, physical examination, and mutation analyses of genomic DNA. RESULTS: Ten disease-causing variants of the dysferlin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23519732
DOI: 10.1002/mus.23666

Genes

DYSF

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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