X-linked myopathy with postural muscle atrophy: genes and variants
X-linked myopathy with postural muscle atrophy is linked to 1 analyzed protein (FHL1). 17 DNA variants are known to cause it; 115 more are uncertain, and 2 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to X-linked myopathy with postural muscle atrophy
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.
17 disease-causing and 115 uncertain variants in FHL1 are linked to X-linked myopathy with postural muscle atrophy.
Where X-linked myopathy with postural muscle atrophy variants cluster
- FHL1 LIM zinc-binding 2 (positions 101–153): 11 of 17 disease-causing changes, 3.9× more than its size predicts.
Known disease-causing variants in X-linked myopathy with postural muscle atrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FHL1 C150R | 150 | LIM zinc-binding 2 | Disease-causing (★★) |
| FHL1 C153R | 153 | LIM zinc-binding 2 | Disease-causing (★★) |
| FHL1 W122S | 122 | LIM zinc-binding 2 | Disease-causing (★★) |
| FHL1 C224W | 224 | Disease-causing (★★) | |
| FHL1 H123R | 123 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 H123Q | 123 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C150Y | 150 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C150W | 150 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C153S | 153 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C153Y | 153 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C153W | 153 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C101R | 101 | LIM zinc-binding 2 | Disease-causing (★) |
| FHL1 C209R | 209 | LIM zinc-binding 3 | Disease-causing (★) |
| FHL1 M1T | 1 | Disease-causing (★) | |
| FHL1 C276Y | 276 | Disease-causing (★) | |
| FHL1 T315S | 315 | Disease-causing (★) | |
| FHL1 V280M | 280 | Disease-causing |
Uncertain variants in X-linked myopathy with postural muscle atrophy that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| FHL1 W122C | 122 | LIM zinc-binding 2 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; W122S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
| FHL1 C153G | 153 | LIM zinc-binding 2 | Uncertain (★★) | +6: 7 other pathogenic changes within 3 positions; C153R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
Same protein, different disease
- Myopathy, reducing body, X-linked, early-onset, severe is also caused by FHL1 variants; they fall in the same places as the X-linked myopathy with postural muscle atrophy variants (5 disease-causing).
Diseases related to X-linked myopathy with postural muscle atrophy
- Emery-Dreifuss muscular dystrophy, also linked to FHL1
- Myopathy, also linked to FHL1
- Myopathy, reducing body, X-linked, early-onset, severe, 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 X-linked myopathy with postural muscle atrophy?
In CATVariant, X-linked myopathy with postural muscle atrophy is linked to 1 analyzed protein: FHL1 (Four and a half LIM domains protein 1).
How many genetic variants are linked to X-linked myopathy with postural muscle atrophy?
182 variants: 17 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 115 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked myopathy with postural muscle atrophy look disease-causing?
2 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example FHL1 W122C and FHL1 C153G. These are leads for expert review, not diagnoses.
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.
Download every variant as CSV · Browse all diseases · Methods · About the Center