Myopathy, reducing body, X-linked, early-onset, severe: genes and variants
Myopathy, reducing body, X-linked, early-onset, severe is linked to 1 analyzed protein (FHL1). 5 DNA variants are known to cause it; 6 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 Myopathy, reducing body, X-linked, early-onset, severe
FHL1: Four and a half LIM domains protein 1
It organizes protein complexes in striated muscle and participates in mechanosensing, sarcomere structure, and transcriptional responses. X-linked pathogenic variants cause a spectrum including reducing-body myopathy, Emery-Dreifuss muscular dystrophy, scapuloperoneal myopathy, and cardiomyopathy.
5 disease-causing and 6 uncertain variants in FHL1 are linked to Myopathy, reducing body, X-linked, early-onset, severe.
Where Myopathy, reducing body, X-linked, early-onset, severe variants cluster
- FHL1 LIM zinc-binding 2 (positions 101–153): 5 of 5 disease-causing changes, 6.1× more than its size predicts.
Known disease-causing variants in Myopathy, reducing body, X-linked, early-onset, severe
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FHL1 C150R | 150 | LIM zinc-binding 2 | Disease-causing (★★) |
| FHL1 C101F | 101 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 H123Y | 123 | LIM zinc-binding 2 | Disease-causing |
| FHL1 H123L | 123 | LIM zinc-binding 2 | Disease-causing |
| FHL1 C153F | 153 | LIM zinc-binding 2 | Disease-causing |
Same protein, different disease
- X-linked myopathy with postural muscle atrophy is also caused by FHL1 variants; they fall partly in the same places as the Myopathy, reducing body, X-linked, early-onset, severe variants (17 disease-causing).
Diseases related to Myopathy, reducing body, X-linked, early-onset, severe
- X-linked myopathy with postural muscle atrophy, also linked to FHL1
- Emery-Dreifuss muscular dystrophy, also linked to FHL1
- Myopathy, also linked to FHL1
- Centronuclear myopathy, also linked to FHL1
- Myopathy, reducing body, X-linked, childhood-onset, also linked to FHL1
- Uruguay Faciocardiomusculoskeletal syndrome, also linked to FHL1
- X-linked scapuloperoneal muscular dystrophy, also linked to FHL1
Frequently asked questions
Which genes are linked to Myopathy, reducing body, X-linked, early-onset, severe?
In CATVariant, Myopathy, reducing body, X-linked, early-onset, severe is linked to 1 analyzed protein: FHL1 (Four and a half LIM domains protein 1).
How many genetic variants are linked to Myopathy, reducing body, X-linked, early-onset, severe?
21 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myopathy, reducing body, X-linked, early-onset, severe 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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