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myopathy, congenital, with tremor - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital, with tremor

MONDO:0032797

Also known as:MYOTREMMyogenic Tremor

Overview

GeneticsAutosomal dominant · MYBPC1 (chr 12)

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: Flexion contracture and EMG: myopathic abnormalities; and very common findings: Postural tremor and Axial muscle weakness. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Flexion contracture, Distal muscle weakness, Axial muscle weakness

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.

MYBPC1 encodes myosin binding protein C1 (1,141 aa). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin. Highest expression in Muscle Skeletal (3,636 TPM) and Prostate (54.5 TPM).

Myopathy, congenital, with tremor is associated with mutations in the MYBPC1 gene on chromosome 12.

MYBPC1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for MYBPC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 6 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, congenital, with tremor.

11 publications have been identified in PubMed for myopathy, congenital, with tremor. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618524

Questions for Your Care Team

→Should I pursue genetic testing for MYBPC1, and what would the results mean for my family?
→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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Kisho

myopathy, congenital, with tremor

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, congenital, with tremor

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications