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Article

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Neuromuscular disorders : NMD - 1 Mar 2015

Guo Yiran, Menezes Minal J, Menezes Manoj P, Liang Jinlong, Li Dong, Riley Lisa G, Clarke Nigel F, Andrews P Ian, Tian Lifeng, Webster Richard, Wang Fengxiang, Liu Xuanzhu, Shen Yulan, Thorburn David R, Keating Brendan J, Engel Andrew, Hakonarson Hakon, Christodoulou John, Xu Xun

Abstract excerpt

Clinical phenotypes of congenital myasthenic syndromes and primary mitochondrial disorders share significant overlap in their clinical presentations, leading to challenges in making the correct diagnosis. Next generation sequencing is transforming molecular diagnosis of inherited neuromuscular disorders by identifying novel disease genes and by identifying previously known genes in undiagnosed patients. This is...

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Identifiers

PMID: 25557462
DOI: 10.1016/j.nmd.2014.11.017
PMCID: PMC5642298

Genes

COLQ
DOK7

Variants

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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