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autosomal dominant nebulin-related myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nebulin-related myopathy

MONDO:1010152

Overview

Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance.

ResearchLimited published research (3 articles)

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 autosomal dominant nebulin-related myopathy.

3 publications have been identified in PubMed for autosomal dominant nebulin-related myopathy. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Caramizaru A (2026). [PMID: 41826152](https://pubmed.ncbi.nlm.nih.gov/41826152/). *Neuropathology and applied neurobiology*. [Case Report / Case Series]
Sagath L (2025). [PMID: 40517164](https://pubmed.ncbi.nlm.nih.gov/40517164/). *European journal of human genetics : EJHG*. [Review / Meta-Analysis]
Sagath L (2024). [PMID: 39802796](https://pubmed.ncbi.nlm.nih.gov/39802796/). *medRxiv : the preprint server for health sciences*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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autosomal dominant nebulin-related myopathy

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team