myopathy, congenital, with structured cores and z-line abnormalities
MONDO:0032852Mondo
Findings
No curated finding names myopathy, congenital, with structured cores and z-line abnormalities 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
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.
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- 2 of 2 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 2 reported patients · Infantile onset
- Congestive heart failureHPOHP:0001635
- 1 of 2 reported patients · Infantile onset
- Abnormal Z disk morphologyHPOHP:0020202
- Delayed ability to walkHPOHP:0031936
- Distal muscle weaknessHPOHP:0002460
- Feeding difficulties in infancyHPOHP:0008872
- Generalized hypotoniaHPOHP:0001290
- High palateHPOHP:0000218
- Muscle fiber atrophyHPOHP:0100295
Show the remaining 8
- Muscle weaknessHPOHP:0001324
- OphthalmoparesisHPOHP:0000597
- Proximal muscle weaknessHPOHP:0003701
- Childhood onset
- Reduced vital capacityHPOHP:0002792
- Respiratory insufficiencyHPOHP:0002093
- ScoliosisHPOHP:0002650
- Weak extraocular musclesHPOHP:0007715
- Weakness of facial musculatureHPOHP:0030319
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.
- ACTN2HGNC:164
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: myopathy, congenital, with structured cores and z-line abnormalities
- Also called
- myopathy, congenital with structured cores and z-line abnormalities