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Article

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.

BMC pediatrics - 29 Apr 2021

Zhang Gang, Xu Min, Huang Tingting, Lin Wenxin, Chen Jinglin, Chen Wangyang, Chang Xingzhi

Abstract excerpt

BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child, a 13-year-old female, had delayed motor development since childhood, weakness of both lower extremities for...

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Identifiers

PMID: 33926407
DOI: 10.1186/s12887-021-02656-6
PMCID: PMC8082920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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