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mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Muscles	7	Achilles tendon contracture, Muscle weakness, Cytochrome C oxidase-negative muscle fibers
Brain and nerves	4	Mild intellectual disability, Headache, Exercise intolerance
Lab test results	3	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Increased circulating lactate concentration, Decreased activity of mitochondrial complex IV
Heart and blood vessels	3	Heart murmur, Thickened heart muscle (hypertrophic cardiomyopathy), Thickened left heart wall (left ventricular hypertrophy)
Eyes	1	Cataract
Digestive system	1	Nausea and vomiting
Bones and joints	1	Skeletal muscle atrophy
Lungs and breathing	1	Dyspnea

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 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive.

140 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive. Research spans Basic Science / Preclinical (44%), Review / Meta-Analysis (14%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	62	44%
Research summaries	20	14%
Disease patterns and progression	20	14%
Patient case studies	15	11%
New treatment approaches	11	8%
Clinical study results	7	5%
Testing and diagnosis research	4	3%
Other research	1	1%

Recent Publications

Soto Albrecht YE (2026). [PMID: 42234733](https://pubmed.ncbi.nlm.nih.gov/42234733/). *Sci Adv*. [Basic Science / Preclinical]
Kleefeld F (2026). [PMID: 41934478](https://pubmed.ncbi.nlm.nih.gov/41934478/). *Acta Neuropathol*. [Basic Science / Preclinical]
Torraco A (2026). [PMID: 41924699](https://pubmed.ncbi.nlm.nih.gov/41924699/). *Brain Commun*. [Basic Science / Preclinical]
Grünert SC (2026). [PMID: 41554131](https://pubmed.ncbi.nlm.nih.gov/41554131/). *J Inherit Metab Dis*. [Epidemiology / Natural History]
Kwan JY (2026). [PMID: 41911331](https://pubmed.ncbi.nlm.nih.gov/41911331/). *Brain*. [Case Report / Case Series]
Banerjee S (2026). [PMID: 41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/). *Mitochondrion*. [Epidemiology / Natural History]
Mancuso M (2026). [PMID: 41999163](https://pubmed.ncbi.nlm.nih.gov/41999163/). *Eur J Neurol*. [Review / Meta-Analysis]
Alm V (2026). [PMID: 41603480](https://pubmed.ncbi.nlm.nih.gov/41603480/). *Eur J Neurol*. [Epidemiology / Natural History]
Nakamura K (2026). [PMID: 41404351](https://pubmed.ncbi.nlm.nih.gov/41404351/). *Neurol Genet*. [Basic Science / Preclinical]
Damiano M (2026). [PMID: 41729327](https://pubmed.ncbi.nlm.nih.gov/41729327/). *J Neurol*. [Basic Science / Preclinical]

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mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

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