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myofibrillar myopathy 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibrillar myopathy 5

MONDO:0012289

Also known as:FLNC myofibrillar myopathy (disease)filaminopathymyofibrillar myopathy (disease) caused by mutation in FLNC

Overview

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

GeneticsAutosomal dominant · FLNC (chr 7)

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: Muscle fiber cytoplasmatic inclusion bodies, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Muscle fiber splitting, and Abnormal peripheral nervous system morphology and 5 more.

Organ System	Phenotype Count	Example Features
Muscles	5	Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Difficulty climbing stairs

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.

FLNC encodes filamin C (2,725 aa). Muscle-specific filamin, which plays a central role in sarcomere assembly and organization. Highest expression in Muscle Skeletal (996.8 TPM) and Colon Sigmoid (375.8 TPM).

Myofibrillar myopathy 5 is associated with mutations in the FLNC gene on chromosome 7.

FLNC is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

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

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 5.

17 publications have been identified in PubMed for myofibrillar myopathy 5. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (35%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	6	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609524

Orphanet

European rare disease database

Orphanet:171445

GARD

Genetic and Rare Diseases Info Center

GARD:17062

Questions for Your Care Team

→Should I pursue genetic testing for FLNC, 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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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.