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autosomal recessive limb-girdle muscular dystrophy type 2N - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Complete right bundle branch block, Skeletal muscle hypertrophy, and Proximal muscle weakness. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Progressive muscle deterioration (muscular dystrophy), Skeletal muscle hypertrophy, Proximal muscle weakness
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Heart and blood vessels	1	Complete right bundle branch block
Bones and joints	1	Skeletal muscle hypertrophy

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

100 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2N. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (62%), Epidemiology / Natural History (17%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Research summaries	18	62%
Disease patterns and progression	5	17%
Clinical study results	4	14%
Other research	2	7%

Recent Publications

Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Woodward LJ (2025). [PMID: 39491338](https://pubmed.ncbi.nlm.nih.gov/39491338/). *Acta Paediatr*. [Review / Meta-Analysis]
Taki S (2025). [PMID: 40785243](https://pubmed.ncbi.nlm.nih.gov/40785243/). *Int J Nurs Pract*. [Clinical Trial Publication]
Marshall KH (2025). [PMID: 39838237](https://pubmed.ncbi.nlm.nih.gov/39838237/). *Qual Life Res*. [Epidemiology / Natural History]
Campbell JI (2025). [PMID: 39509188](https://pubmed.ncbi.nlm.nih.gov/39509188/). *Curr Opin Pediatr*. [Review / Meta-Analysis]
Silverstein M (2025). [PMID: 39780401](https://pubmed.ncbi.nlm.nih.gov/39780401/). *Gerontologist*. [Review / Meta-Analysis]
Antunes LAA (2025). [PMID: 40946147](https://pubmed.ncbi.nlm.nih.gov/40946147/). *Pediatr Dent*. [Review / Meta-Analysis]
McMahon EL (2025). [PMID: 41206319](https://pubmed.ncbi.nlm.nih.gov/41206319/). *Curr Probl Pediatr Adolesc Health Care*. [Review / Meta-Analysis]
Sun Y (2025). [PMID: 40645130](https://pubmed.ncbi.nlm.nih.gov/40645130/). *Midwifery*. [Review / Meta-Analysis]
Dewan T (2024). [PMID: 39229799](https://pubmed.ncbi.nlm.nih.gov/39229799/). *Health Expect*. [Review / Meta-Analysis]

Kisho

autosomal recessive limb-girdle muscular dystrophy type 2N

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal recessive limb-girdle muscular dystrophy type 2N

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team