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Article

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Journal of neuromuscular diseases - 1 Sept 2026

Staedler Katia, Gerasimenko Anna, Nava Caroline, Heron Delphine, Schaerer Elodie, Gitiaux Cyril, Authier François-Jerôme, Stojkovic Tanya, Malfatti Edoardo, Villar-Quiles Rocio-Nur

Abstract excerpt

Haploinsufficiency of SOX5 causes Lamb-Shaffer syndrome, a rare condition with developmental delay, impaired language and intellectual disability and optic nerve abnormalities. Muscle involvement is poorly characterized. We report a 20-year-old woman with neonatal hypotonia, delayed motor milestones, proximal weakness and learning difficulties. Serum creatine kinase was normal. Electroneuromyography revealed a...

Read the complete abstract on PubMed

Topics

Female
Humans
Young Adult
Muscle, Skeletal
Phenotype
SOXD Transcription Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

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Identifiers

PMID: 41739084
DOI: 10.1177/22143602261428296
PMCID: PMC13438834

Genes

SOX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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