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myopathy, distal, infantile-onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, distal, infantile-onset

MONDO:0008049

Overview

GeneticsAutosomal dominant

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 sometimes findings: Enlarged calf muscles (calf muscle hypertrophy). 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Enlarged calf muscles (calf muscle hypertrophy), Distal muscle weakness, Foot dorsiflexor weakness

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, distal, infantile-onset.

1 publication has been identified in PubMed for myopathy, distal, infantile-onset. Research spans Case Report / Case Series (100%).

Recent Publications

Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *Journal of neuromuscular diseases*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:160300

Questions for Your Care Team

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myopathy, distal, infantile-onset

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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