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Article

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

Journal of human genetics - 1 Jun 2016

Oliveira Jorge, Gonçalves Ana, Taipa Ricardo, Melo-Pires Manuel, Oliveira Márcia E, Costa José Luís, Machado José Carlos, Medeiros Elmira, Coelho Teresa, Santos Manuela, Santos Rosário, Sousa Mário

Abstract excerpt

Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings are suggestive of a CM but are not necessarily gene specific. Over 20 loci have been linked to...

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Identifiers

PMID: 26841830
DOI: 10.1038/jhg.2016.2

Genes

NEB
RYR1
TTN
DNM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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