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pure mitochondrial myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pure mitochondrial myopathy

MONDO:0016807

Overview

Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.

ResearchLimited published research (2 articles)

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 pure mitochondrial myopathy.

2 publications have been identified in PubMed for pure mitochondrial myopathy. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Aksu-Menges E (2025). [PMID: 39833026](https://pubmed.ncbi.nlm.nih.gov/39833026/). *J Cell Mol Med*. [Basic Science / Preclinical]
Peart L (2024). [PMID: 38700265](https://pubmed.ncbi.nlm.nih.gov/38700265/). *Balkan Med J*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254854

GARD

Genetic and Rare Diseases Info Center

GARD:20768

Questions for Your Care Team

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pure mitochondrial myopathy

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team