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myasthenia, limb-girdle, autoimmune - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenia, limb-girdle, autoimmune

MONDO:0008036

Also known as:myasthenia gravis, limb-girdle

Overview

GeneticsSporadic (not inherited)

ResearchLimited published research (2 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: Type 2 muscle fiber atrophy, Neoplasm, Fatigable weakness, and Mildly elevated creatine kinase and 7 more.

Organ System	Phenotype Count	Example Features
Muscles	3	Type 2 muscle fiber atrophy, Fatigable weakness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

Diagnosis

Biomarker and diagnostic research for myasthenia, limb-girdle, autoimmune has been reported in the published literature.

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 myasthenia, limb-girdle, autoimmune.

2 publications have been identified in PubMed for myasthenia, limb-girdle, autoimmune. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Habib AA (2025). [PMID: 41101823](https://pubmed.ncbi.nlm.nih.gov/41101823/). *International review of neurobiology*. [Diagnostic / Biomarker]
Sun H (2024). [PMID: 39021570](https://pubmed.ncbi.nlm.nih.gov/39021570/). *Frontiers in immunology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:159400

Questions for Your Care Team

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myasthenia, limb-girdle, autoimmune

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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