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Article

Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

International journal of molecular sciences - 12 May 2026

Mikhalchuk Kristina, Artemieva Svetlana, Zabnenkova Viktoria, Akhkiamova Maria, Dadali Elena, Rudenskaya Galina, Sparber Peter, Rybakova Olga, Papina Yulia, Monakhova Anastasiya, Shulyakova Irina, Saiko Dmitriy, Zhiteneva Svetlana, Polyakov Alexander, Shchagina Olga

Abstract excerpt

Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause of 5q SMA is attributed to variants in SMN1. To date, there are no reported cases of gene-based therapy in rare patients with 5q SMA caused by subtle SMN1 variants of unknown clinical significance. We included 10 patients with the clinical manifestations of 5q SMA associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42196280
DOI: 10.3390/ijms27104301
PMCID: PMC13207005

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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