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myopathy, congenital proximal, with minicore lesions - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital proximal, with minicore lesions

MONDO:0032937

Also known as:MYOPMIL

Overview

GeneticsAutosomal recessive · FXR1 (chr 3)

OnsetANTENATAL, NEONATAL

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: Neonatal hypotonia. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Neonatal hypotonia

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.

FXR1 encodes FMR1 autosomal homolog 1 (621 aa). mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis. Highest expression in Muscle Skeletal (96.3 TPM) and Testis (70.5 TPM).

Myopathy, congenital proximal, with minicore lesions is associated with mutations in the FXR1 gene on chromosome 3.

The FXR1 protein participates in FXR1(2-784)-p-BRAF(381-766) fusion and FXR1(2-784)-BRAF(381-766) fusion pathways.

FXR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FXR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618823

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, congenital proximal, with minicore lesions

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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