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Article

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Neuromuscular disorders : NMD - 1 Jan 2016

Evilä Anni, Arumilli Meharji, Udd Bjarne, Hackman Peter

Abstract excerpt

Mutations in more than 100 different genes are known to cause hereditary primary myopathies. In patients with less distinct phenotypes several genes may have to be sequenced in order to make the correct diagnosis. The large number of possible candidate genes and overlapping phenotypes, as well as an enormous size of some of the genes such as DMD, TTN and NEB, constitute difficult challenges for molecular genetic...

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Identifiers

PMID: 26627873
DOI: 10.1016/j.nmd.2015.10.003

Genes

TTN
DMD
NEB

Provenance

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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