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muscular dystrophy, limb-girdle, autosomal recessive 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy, limb-girdle, autosomal recessive 26

MONDO:0030014

Also known as:LGMDR26

Overview

GeneticsAutosomal recessive · POPDC3 (chr 6)

OnsetADULT

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Highly elevated creatine kinase, Enlarged calf muscles (calf muscle hypertrophy), Difficulty running, and Proximal lower limb muscle weakness and 5 more.

Organ System	Phenotype Count	Example Features
Muscles	7	Enlarged calf muscles (calf muscle hypertrophy), Proximal lower limb muscle weakness, Fatty replacement of skeletal muscle

Genetic Landscape

POPDC3 function has not been fully characterized.

Muscular dystrophy, limb-girdle, autosomal recessive 26 is associated with mutations in the POPDC3 gene on chromosome 6.

Diagnosis

Genetic testing for POPDC3 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for muscular dystrophy, limb-girdle, autosomal recessive 26.

6 publications have been identified in PubMed for muscular dystrophy, limb-girdle, autosomal recessive 26. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Smaili F (2026). [PMID: 41677014](https://pubmed.ncbi.nlm.nih.gov/41677014/). *Biomol Biomed*. [Review / Meta-Analysis]
Mouloudi N (2026). [PMID: 41954144](https://pubmed.ncbi.nlm.nih.gov/41954144/). *Acta Myol*. [Epidemiology / Natural History]
Anwar S (2025). [PMID: 39967852](https://pubmed.ncbi.nlm.nih.gov/39967852/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Sun CC (2025). [PMID: 40237439](https://pubmed.ncbi.nlm.nih.gov/40237439/). *J Cachexia Sarcopenia Muscle*. [Basic Science / Preclinical]
Paprad T (2025). [PMID: 40195250](https://pubmed.ncbi.nlm.nih.gov/40195250/). *Neurol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618848

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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muscular dystrophy, limb-girdle, autosomal recessive 26

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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