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

Features include always present findings: Loss of ambulation; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Delayed speech and language development, Myopathic facies, and Broad-based gait and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	12	Falsely enlarged calf muscles (calf muscle pseudohypertrophy), Progressive muscle deterioration (muscular dystrophy), Loss of ambulation
Brain and nerves	4	Delayed speech and language development, Broad-based gait, Difficulty walking (gait disturbance)
Heart and blood vessels	2	Enlarged and weakened heart (dilated cardiomyopathy), Heart muscle disease (cardiomyopathy)
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Arms and legs	1	Limb-girdle muscle weakness

Age of onset: adolescence.

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily industry-sponsored.

10 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2E. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (20%), and Gene Therapy / Novel Therapeutics (20%).

Research Type	Count	% of Total
Laboratory research	5	50%
Disease patterns and progression	2	20%
New treatment approaches	2	20%
Research summaries	1	10%

Recent Publications

Baine S (2026). [PMID: 41194675](https://pubmed.ncbi.nlm.nih.gov/41194675/). *Hum Gene Ther*. [Gene Therapy / Novel Therapeutics]
Biquand A (2026). [PMID: 41445184](https://pubmed.ncbi.nlm.nih.gov/41445184/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Cano-Martínez LJ (2026). [PMID: 42150328](https://pubmed.ncbi.nlm.nih.gov/42150328/). *Tissue Cell*. [Basic Science / Preclinical]
Kale MY (2025). [PMID: 40774080](https://pubmed.ncbi.nlm.nih.gov/40774080/). *Eur J Paediatr Neurol*. [Epidemiology / Natural History]
Long AM (2024). [PMID: 38582404](https://pubmed.ncbi.nlm.nih.gov/38582404/). *Matrix Biol*. [Basic Science / Preclinical]
Zarén P (2024). [PMID: 38926599](https://pubmed.ncbi.nlm.nih.gov/38926599/). *Sci Rep*. [Basic Science / Preclinical]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *Int J Mol Sci*. [Review / Meta-Analysis]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]
Rahmuni Y (2024). [PMID: 39174842](https://pubmed.ncbi.nlm.nih.gov/39174842/). *Ir J Med Sci*. [Basic Science / Preclinical]
Scano M (2024). [PMID: 39769077](https://pubmed.ncbi.nlm.nih.gov/39769077/). *Int J Mol Sci*. [Basic Science / Preclinical]

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autosomal recessive limb-girdle muscular dystrophy type 2E

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 2E

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