Bethlem myopathy 1B
MONDO:0958233Mondo
Findings
No curated finding names Bethlem myopathy 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of skeletal muscle fiber sizeHPOHP:0012084
- 2 of 2 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- Elbow contractureHPOHP:0034391
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 9 of 9 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 2 of 2 reported patients
- Muscle fiber necrosisHPOHP:0003713
- 2 of 2 reported patients
- Muscle fiber splittingHPOHP:0003555
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 11 of 11 reported patients
- Distal muscle weaknessHPOHP:0002460
- 6 of 9 reported patients
- Interphalangeal joint contracture of fingerHPOHP:0001220
- 5 of 9 reported patients
- Spinal rigidityHPOHP:0003306
- 1 of 2 reported patients
- Knee contractureHPOHP:0034671
- 5 of 11 reported patients
Show the remaining 1
- Ankle contractureHPOHP:0034677
- 4 of 11 reported patients
Where it sits
- A kind of