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lethal infantile mitochondrial myopathy (LIMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal infantile mitochondrial myopathy

MONDO:0010792

Also known as:LIMDLIMMlethal infantile mitochondrial disease

Overview

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

GeneticsMitochondrial (maternal)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Myopathy, Lethal infantile mitochondrial myopathy, and Lactic acidosis.

Organ System	Phenotype Count	Example Features
Muscles	2	Myopathy, Lethal infantile mitochondrial myopathy

Explore clinical features

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 lethal infantile mitochondrial myopathy.

1 publication has been identified in PubMed for lethal infantile mitochondrial myopathy. Research spans Basic Science / Preclinical (100%).

Recent Publications

Tan NB (2026). [PMID: 41916321](https://pubmed.ncbi.nlm.nih.gov/41916321/). *Am J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:551000

Orphanet

European rare disease database

Orphanet:254857

GARD

Genetic and Rare Diseases Info Center

GARD:17226

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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lethal infantile mitochondrial myopathy

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team