myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
MONDO:0975830Mondo
Findings
No curated finding names myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 12 of 12 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 7 of 8 reported patients
- MyalgiaHPOHP:0003326
- 10 of 12 reported patients
- Exercise intoleranceHPOHP:0003546
- 9 of 12 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 6 of 8 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 4 of 8 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 12 reported patients
- MyositisHPOHP:0100614
- 2 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 10 reported patients
- Specific learning disabilityHPOHP:0001328
- 2 of 10 reported patients
- RhabdomyolysisHPOHP:0003201
- 1 of 8 reported patients
Show the remaining 4
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 10 reported patients
- Abnormal cardiac ventricular functionHPOHP:0030872
- 0 of 4 reported patients
- Abnormal nerve conduction velocityHPOHP:0040129
- 0 of 2 reported patients