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myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

MONDO:0859168

Overview

GeneticsAutosomal recessive · MYL2 (chr 12)

OnsetNEONATAL

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 always present findings: Clonus, Enlarged liver (hepatomegaly), Generalized hypotonia, and Right atrial enlargement and others; and common findings: Tented upper lip vermilion, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Enlarged and weakened heart (dilated cardiomyopathy), and Cardiogenic shock and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYL2 encodes myosin light chain 2 (166 aa). Contractile protein that plays a role in heart development and function. Highest expression in Heart Left Ventricle (14,495 TPM) and Muscle Skeletal (12,093 TPM).

Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy is associated with mutations in the MYL2 gene on chromosome 12.

MYL2 is classified as a druggable target with score 2.5.

Diagnosis

Genetic testing for MYL2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 7 common 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 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy.

1 publication has been identified in PubMed for myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy. Research spans Review / Meta-Analysis (100%).

Recent Publications

Miller EM (2025). [PMID: 39484862](https://pubmed.ncbi.nlm.nih.gov/39484862/). *J Genet Couns*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619424

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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