autosomal dominant nebulin-related myopathy
Findings
No curated finding names autosomal dominant nebulin-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:1010152), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NEBHGNC:7720
- Moderate · ClinGen · Autosomal dominant · 2025