Neuromuscular disease: genes and variants
Neuromuscular disease is linked to 1 analyzed protein (LDB3). 2 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Neuromuscular disease
LDB3: LIM domain-binding protein 3
It organizes Z-disc protein complexes and helps maintain sarcomere integrity during repeated muscle contraction. Pathogenic variants can cause myofibrillar myopathy and dilated or other forms of cardiomyopathy.
2 disease-causing and 0 uncertain variants in LDB3 are linked to Neuromuscular disease.
Weakly linked (only a few uncertain records): RYR1, ATP1A1, H6PD, HMGCR and SCN4A.
Known disease-causing variants in Neuromuscular disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LDB3 A166V | 166 | Disease-causing (★★) | |
| LDB3 A279V | 279 | Disease-causing (★★) |
Same protein, different disease
- Dilated cardiomyopathy is also caused by LDB3 variants; they fall mostly in different places as the Neuromuscular disease variants (4 disease-causing).
Diseases related to Neuromuscular disease
- Hypertrophic cardiomyopathy, also linked to LDB3
- Dilated cardiomyopathy, also linked to LDB3
- Myofibrillar myopathy, also linked to LDB3
- Left ventricular noncompaction, also linked to LDB3
- Primary familial dilated cardiomyopathy, also linked to LDB3
Frequently asked questions
Which genes are linked to Neuromuscular disease?
In CATVariant, Neuromuscular disease is linked to 1 analyzed protein: LDB3 (LIM domain-binding protein 3).
How many genetic variants are linked to Neuromuscular disease?
8 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neuromuscular disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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