Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

doi:10.1186/s13023-014-0121-9

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Article

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Orphanet journal of rare diseases - 1 Aug 2014

Semmler Anna-Lena, Sacconi Sabrina, Bach J Elisa, Liebe Claus, Bürmann Jan, Kley Rudolf A, Ferbert Andreas, Anderheiden Roland, Van den Bergh Peter, Martin Jean-Jacques, De Jonghe Peter, Neuen-Jacob Eva, Müller Oliver, Deschauer Marcus, Bergmann Markus, Schröder J Michael, Vorgerd Matthias, Schulz Jörg B, Weis Joachim, Kress Wolfram, Claeys Kristl G

Abstract excerpt

BACKGROUND: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. METHODS: We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and next generation sequencing...

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Identifiers

PMID: 25208129
DOI: 10.1186/s13023-014-0121-9
PMCID: PMC4347565

Genes

BAG3
FLNC
DES
CRYAB
MYOT

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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