myopathy, sarcoplasmic body
MONDO:0859530Mondo
Findings
No curated finding names myopathy, sarcoplasmic body 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
- Adult onset
HPO, annotations 2026-09-02
Features
12 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
- 14 of 14 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 14 of 14 reported patients
- Axial muscle weaknessHPOHP:0003327
- 13 of 14 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 13 of 14 reported patients
- Weakness of the intrinsic hand musclesHPOHP:0009005
- 13 of 14 reported patients
- Sarcoplasmic bodiesHPOHP:0034722
- 21 of 24 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 12 of 14 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 11 of 14 reported patients
- DysphagiaHPOHP:0002015
- 10 of 14 reported patients
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 9 of 14 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 8 of 14 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 0 of 14 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.
- MBHGNC:6915
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025