MYPN-related myopathy
Findings
No curated finding names MYPN-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
Definition from the Mondo Disease Ontology (MONDO:0015023), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients
- Nemaline bodiesHPOHP:0003798
- 4 of 4 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 3 of 4 reported patients
- CardiomyopathyHPOHP:0001638
- 2 of 4 reported patients
- Reduced vital capacityHPOHP:0002792
- 1 of 2 reported patients
- Waddling gaitHPOHP:0002515
Show the remaining 3
- Talipes equinovarusHPOHP:0001762
- 1 of 4 reported patients
- Abnormal circulating creatine kinase activityHPOHP:0040081
- 0 of 4 reported patients
- Facial palsyHPOHP:0010628
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.
- MYPNHGNC:23246
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: MYPN-related myopathy
- Also called
- MYPN nemaline myopathyNEM11nemaline myopathy 11nemaline myopathy 11, autosomal recessivenemaline myopathy caused by mutation in MYPNnemaline myopathy type 11