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proximal myopathy with focal depletion of mitochondria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal myopathy with focal depletion of mitochondria

MONDO:0010923

Overview

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Exercise-induced myalgia, and Proximal muscle weakness.

Organ System	Phenotype Count	Example Features
Muscles	2	Exercise-induced myalgia, Proximal muscle weakness

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 proximal myopathy with focal depletion of mitochondria.

1 publication has been identified in PubMed for proximal myopathy with focal depletion of mitochondria. Research spans Case Report / Case Series (100%).

Recent Publications

Risi B (2025). [PMID: 39980054](https://pubmed.ncbi.nlm.nih.gov/39980054/). *Journal of medical case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:24 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600706

Orphanet

European rare disease database

Orphanet:521305

GARD

Genetic and Rare Diseases Info Center

GARD:17956

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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proximal myopathy with focal depletion of mitochondria

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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