myopathy, centronuclear, 5
Findings
No curated finding names myopathy, centronuclear, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.
Definition from the Mondo Disease Ontology (MONDO:0014418), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 3 of 3 reported patients
- High palateHPOHP:0000218
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 3 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 3 reported patients
- RetrognathiaHPOHP:0000278
Show the remaining 7
- MicrognathiaHPOHP:0000347
- 1 of 3 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 3 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 3 reported patients
- OphthalmoplegiaHPOHP:0000602
- 1 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 3 reported patients
- Abnormal circulating creatine kinase activityHPOHP:0040081
- 0 of 3 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.
- SPEGHGNC:16901
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: myopathy, centronuclear, 5
- Also called
- autosomal recessive centronuclear myopathy caused by mutation in SPEGmyopathy, centronuclear, type 5SPEG autosomal recessive centronuclear myopathy