myofibrillar myopathy 10
MONDO:0033620Mondo
Findings
No curated finding names myofibrillar myopathy 10 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
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Broad neckHPOHP:0000475
- 4 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
- Flexion contracture of fingerHPOHP:0012785
- 3 of 4 reported patients
- Ankle flexion contractureHPOHP:0006466
- 2 of 4 reported patients
- Elbow flexion contractureHPOHP:0002987
- 2 of 4 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 2 of 4 reported patients
- Increased circulating troponin I concentrationHPOHP:0410173
- 2 of 4 reported patients
- Knee flexion contractureHPOHP:0006380
- 2 of 4 reported patients
- KyphosisHPOHP:0002808
- 2 of 4 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 4 reported patients
- Mandibular prognathiaHPOHP:0000303
- 2 of 4 reported patients
- Muscle spasmHPOHP:0003394
- 2 of 4 reported patients
Show the remaining 7
- Muscle weaknessHPOHP:0001324
- 2 of 4 reported patients
- MyalgiaHPOHP:0003326
- 2 of 4 reported patients
- Percussion myotoniaHPOHP:0010548
- 2 of 4 reported patients
- Postexertional symptom exacerbationHPOHP:0030973
- 2 of 4 reported patients
- Sandal gapHPOHP:0001852
- 2 of 4 reported patients
- Increased QRS voltageHPOHP:0025075
- 1 of 4 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.
- SVILHGNC:11480
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: myofibrillar myopathy 10
- Also called
- MFM10