autosomal dominant centronuclear myopathy
Findings
No curated finding names autosomal dominant centronuclear myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Definition from the Mondo Disease Ontology (MONDO:0008048), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Miscarriage · Childhood onset
HPO, annotations 2026-09-02
Features
48 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.
- Distal lower limb muscle weaknessHPOHP:0009053
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 4 of 4 reported patients
- EMG: myotonic dischargesHPOHP:0100284
- 1 of 1 reported patient
- EMG: positive sharp wavesHPOHP:0030007
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 36
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Neck muscle weaknessHPOHP:0000467
- 3 of 4 reported patients
- OphthalmoparesisHPOHP:0000597
- 3 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 3 of 4 reported patients
- Abnormality of the foot musculatureHPOHP:0001436
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
Genes
3 genes
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.
- DNM2HGNC:2974
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MTMR14HGNC:26190
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- BIN1HGNC:1052
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
12 names
Resolves to: autosomal dominant centronuclear myopathy
- Also called
- AD-CNMautosomal dominant centronuclear myopathy caused by mutation in MYF6centronuclear myopathy 1centronuclear myopathy, autosomal dominantcentronuclear myopathy, autosomal, modifier ofCNM1myopathy, centronuclear, 1myopathy, centronuclear, 3myopathy, centronuclear, autosomal dominantmyopathy, centronuclear, type 1myopathy, centronuclear, type 3myotubular myopathy, autosomal dominant