ArticleGenes2024
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.
Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.Journal of applied genetics · 2025Article
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.International urogynecology journal · 2025Article
- BeyondFrontiers in neurologyArticle
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.
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Registered trials
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