Features include always present findings: Abnormal muscle fiber morphology, Hand muscle weakness, Difficulty climbing stairs, and Increased endomysial connective tissue and others; and very common findings: Highly elevated creatine kinase, Motor delay, Gowers sign, and Axial muscle weakness and others. 41 total HPO annotations.

SNUPN function has not been fully characterized.

Muscular dystrophy, limb-girdle, autosomal recessive 29 is associated with mutations in the SNUPN gene on chromosome 15.

Genetic testing for SNUPN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy, limb-girdle, autosomal recessive 29 has been reported in the published literature.

Phenotype severity distribution: 17 always present features, 6 very common features, 10 common features.

No clinical trials have been registered for muscular dystrophy, limb-girdle, autosomal recessive 29.

4 publications have been identified in PubMed for muscular dystrophy, limb-girdle, autosomal recessive 29. Research spans Other (25%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (25%).

Recent Publications

• Smaili F (2026). [PMID: 41677014](https://pubmed.ncbi.nlm.nih.gov/41677014/). *Biomol Biomed*. [Review / Meta-Analysis]

• Iammarino MA (2025). [PMID: 40997622](https://pubmed.ncbi.nlm.nih.gov/40997622/). *Neuromuscul Disord*. [Other]

• Stolarski Ł (2024). [PMID: 39376872](https://pubmed.ncbi.nlm.nih.gov/39376872/). *Cureus*. [Case Report / Case Series]

• Mohan S (2024). [PMID: 39215466](https://pubmed.ncbi.nlm.nih.gov/39215466/). *Ann Clin Transl Neurol*. [Diagnostic / Biomarker]