myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1
MONDO:0859322Mondo
Findings
No curated finding names myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient · Adult onset
- Distal upper limb muscle weaknessHPOHP:0008959
- 1 of 1 reported patient · Adult onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPOHP:0003259
- 7 of 7 reported patients · Adult onset
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscle fiber necrosisHPOHP:0003713
- 2 of 2 reported patients
- Progressive proximal muscle weaknessHPOHP:0009073
- 1 of 1 reported patient
Show the remaining 8
- Proximal lower limb muscle weaknessHPOHP:0008994
- 1 of 1 reported patient · Adult onset
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 1 reported patient
- Exercise-induced myalgiaHPOHP:0003738
- 6 of 8 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 5 of 7 reported patients
- RhabdomyolysisHPOHP:0003201
- 5 of 8 reported patients
- Exercise-induced muscle crampsHPOHP:0003710
- 3 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MLIPHGNC:21355
- Strong · Ambry Genetics · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025