myopathy, centronuclear, 6, with fiber-type disproportion
MONDO:0054695Mondo
Findings
No curated finding names myopathy, centronuclear, 6, with fiber-type disproportion 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
- Slowly progressive · 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
- 4 of 4 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 4 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 5 of 5 reported patients
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 4 of 4 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 4 of 5 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 3 of 5 reported patients
- Distal muscle weaknessHPOHP:0002460
- 3 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 5 reported patients
- Motor delayHPOHP:0001270
- 3 of 5 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 2 of 4 reported patients
Show the remaining 8
- Rimmed vacuolesHPOHP:0003805
- 2 of 4 reported patients
- HyperlordosisHPOHP:0003307
- 2 of 5 reported patients
- Muscle fiber splittingHPOHP:0003555
- 1 of 4 reported patients
- Ankle flexion contractureHPOHP:0006466
- 1 of 5 reported patients
- Easy fatigabilityHPOHP:0003388
- 1 of 5 reported patients
- Muscle spasmHPOHP:0003394
- 1 of 5 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.
- MAP3K20HGNC:17797
- Strong · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of