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Article

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 Nov 2017

Wu Liang, Xiang Bingwu, Zhang Huan, He Xiaoxiao, Shih Celina, Chen Xiang, Cai Tao

Abstract excerpt

Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders. Here, targeted next generation sequencing of 168 CMD-associated genes was performed on collected clinic samples to identify potential mutations. A loss-of-function mutation (c.4676-4682delGCTGCAA; p.Cys1560Thrfs*33) of the LAMA2 gene in a consanguineous family was identified and confirmed by Sanger sequencing. The second recessive...

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Source

Identifiers

PMID: 28818390
DOI: 10.1016/j.nmd.2017.06.558

Genes

LAMA2
TTN

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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