myopathy, centronuclear, 2
Findings
No curated finding names myopathy, centronuclear, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009709), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset
HPO, annotations 2026-09-02
Features
9 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 4 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 5 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 3 of 5 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 5 reported patients · Congenital onset
- Intrauterine growth retardationHPOHP:0001511
- 3 of 5 reported patients
- OligohydramniosHPOHP:0001562
- 3 of 5 reported patients
- Facial palsy
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.
- BIN1HGNC:1052
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: myopathy, centronuclear, 2
- Also called
- BIN1 centronuclear myopathycentronuclear myopathy caused by mutation in BIN1myopathy, centronuclear, type 2