myopathy, myosin storage, autosomal recessive
MONDO:0009708Mondo
Findings
No curated finding names myopathy, myosin storage, autosomal recessive 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
- Juvenile onset · Slowly progressive · Late young adult onset · Death in early adulthood
HPO, annotations 2026-09-02
Features
24 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
- 2 of 2 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 3 reported patients
- Muscle fiber hyaline bodiesHPOHP:0100306
- 3 of 3 reported patients
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Thoracic scoliosisHPOHP:0002943
- 3 of 3 reported patients
- Biventricular hypertrophyHPOHP:0200128
- 2 of 3 reported patients
- Congestive heart failureHPOHP:0001635
- 2 of 3 reported patients
- Elevated jugular venous pressureHPOHP:0030848
- 2 of 3 reported patients
- Exertional dyspneaHPOHP:0002875
- 2 of 3 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 3 reported patients
Show the remaining 12
- Complete right bundle branch blockHPOHP:0011712
- 1 of 3 reported patients
- Fourth heart soundHPOHP:0031659
- 1 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 3 reported patients
- Limb-girdle muscle weaknessHPOHP:0003325
- 1 of 3 reported patients
- Loss of ambulationHPOHP:0002505
- 1 of 3 reported patients · Middle age onset
- Myopathic faciesHPOHP:0002058
- 1 of 3 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.
- MYH7HGNC:7577
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: myopathy, myosin storage, autosomal recessive
- Also called
- autosomal recessive myosin storage myopathy