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Bethlem myopathy
rareA usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
- Identifiers
- MONDO:0008029 Orphanet:610
- Part of
- Congenital muscular dystrophyCongenital myopathyHereditary neuromuscular diseaseHereditary skeletal muscle disorderProgressive muscular dystrophy
- Also known as
- benign autosomal dominant myopathy · Bethlem myopathy 1 · Bethlem myopathy type 1 · BTHLM1
Subtypes
| Disease | Subtypes |
|---|---|
| Bethlem myopathy 1A | |
| Bethlem myopathy 1B | |
| Bethlem myopathy 1C | |
| Bethlem myopathy 2 |
Rare disease
Projects
Including projects on subtypes.
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