myofibrillar myopathy 11
MONDO:0030927Mondo
Findings
No curated finding names myofibrillar myopathy 11 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
- Congenital onset · Infantile 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
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient · Antenatal onset
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient · Infantile onset
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- Hypernasal speechHPOHP:0001611
- 1 of 1 reported patient
- OverweightHPOHP:0025502
- 1 of 1 reported patient
- Reduced forced vital capacityHPOHP:0032341
- 1 of 1 reported patient
- Z-band streamingHPOHP:0020203
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 9 of 10 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 6 of 8 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 5 of 9 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 5 of 10 reported patients
Show the remaining 8
- EMG: myopathic abnormalitiesHPOHP:0003458
- 5 of 10 reported patients
- Axial muscle weaknessHPOHP:0003327
- 3 of 10 reported patients
- DysphagiaHPOHP:0002015
- 3 of 10 reported patients
- Muscle fiber granulofilamentous inclusion bodiesHPOHP:0034635
- 2 of 8 reported patients
- Coarctation of aortaHPOHP:0001680
- 2 of 10 reported patients
- FatigueHPOHP:0012378
- 2 of 10 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.
- UNC45BHGNC:14304
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: myofibrillar myopathy 11
- Also called
- MFM11myopathy, congenital, with eccentric cores