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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Damage to the optic nerve (optic atrophy)
Muscles	2	Progressive muscle deterioration (muscular dystrophy), Damage to the optic nerve (optic atrophy)
Brain and nerves	2	Enlarged brain ventricles (ventriculomegaly), Intellectual disability
Head and neck	1	Microcephaly
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)

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-dystroglycanopathy (congenital with intellectual disability), type B3.

123 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3. Research spans Basic Science / Preclinical (24%), Case Report / Case Series (23%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	30	24%
Patient case studies	28	23%
Research summaries	26	21%
Disease patterns and progression	21	17%
New treatment approaches	8	7%
Testing and diagnosis research	5	4%
Clinical study results	3	2%
Other research	2	2%

Recent Publications

Qureshi AM (2026). [PMID: 42083863](https://pubmed.ncbi.nlm.nih.gov/42083863/). *Circ Cardiovasc Interv*. [Clinical Trial Publication]
Jose A (2026). [PMID: 41999517](https://pubmed.ncbi.nlm.nih.gov/41999517/). *Neurogenetics*. [Case Report / Case Series]
Gaviglio A (2026). [PMID: 40673334](https://pubmed.ncbi.nlm.nih.gov/40673334/). *Crit Rev Clin Lab Sci*. [Review / Meta-Analysis]
Yu Y (2026). [PMID: 41782369](https://pubmed.ncbi.nlm.nih.gov/41782369/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Case Report / Case Series]
Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
de Queiroz R (2026). [PMID: 41967200](https://pubmed.ncbi.nlm.nih.gov/41967200/). *J Plast Reconstr Aesthet Surg*. [Review / Meta-Analysis]
López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Dis Model Mech*. [Basic Science / Preclinical]
Imae R (2026). [PMID: 41917390](https://pubmed.ncbi.nlm.nih.gov/41917390/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Śledzińska K (2026). [PMID: 41906416](https://pubmed.ncbi.nlm.nih.gov/41906416/). *Pediatr Obes*. [Epidemiology / Natural History]

Kisho

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team