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myofibrillar myopathy 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibrillar myopathy 4

MONDO:0012277

Also known as:LDB3 myofibrillar myopathy (disease)ZASP-related myofibrillar myopathymyofibrillar myopathy (disease) caused by mutation in LDB3

Overview

Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.

GeneticsAutosomal dominant · LDB3 (chr 10)

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: Progressive muscle weakness, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), EMG: neuropathic changes, and Muscle fiber splitting and 8 more.

Organ System	Phenotype Count	Example Features
Muscles	6	Progressive muscle weakness, Muscle fiber splitting, Progressive distal 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.

LDB3 encodes LIM domain binding 3 (727 aa). May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton Highest expression in Heart Left Ventricle (372.3 TPM) and Muscle Skeletal (338.8 TPM).

Myofibrillar myopathy 4 is associated with mutations in the LDB3 gene on chromosome 10.

LDB3 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for LDB3 is available. Testing is considered confirmatory for diagnosis.

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 myofibrillar myopathy 4.

16 publications have been identified in PubMed for myofibrillar myopathy 4. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	9	56%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609452

Orphanet

European rare disease database

Orphanet:98912

GARD

Genetic and Rare Diseases Info Center

GARD:1886

Questions for Your Care Team

→Should I pursue genetic testing for LDB3, 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

myofibrillar myopathy 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.

myofibrillar myopathy 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.