congenital myopathy with internal nuclei and atypical cores
Findings
No curated finding names congenital myopathy with internal nuclei and atypical cores yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Definition from the Mondo Disease Ontology (MONDO:0013890), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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
- 5 of 5 reported patients
- Exercise intoleranceHPOHP:0003546
- 4 of 5 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 3 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 2 of 3 reported patients
- Frequent fallsHPOHP:0002359
- 3 of 5 reported patients
- MyalgiaHPOHP:0003326
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.
- CCDC78HGNC:14153
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: congenital myopathy with internal nuclei and atypical cores
- Also called
- centronuclear myopathy type 4CNM4myopathy, centronuclear, type 4