X-linked myotubular myopathy
Findings
No curated finding names X-linked myotubular myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
Definition from the Mondo Disease Ontology (MONDO:0010683), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
38 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.
- Neonatal hypotoniaHPOHP:0001319
- 45 of 45 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- Low 1-minute APGAR scoreHPOHP:0030918
- 35 of 39 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 33 of 41 reported patients
- Low APGAR scoreHPOHP:0030917
- Very frequent (80% to 99% of cases)
- Type 1 fibers relatively smaller than type 2 fibersHPOHP:0003755
- Very frequent (80% to 99% of cases)
- Birth length greater than 97th percentileHPOHP:0003517
- 25 of 36 reported patients
Show the remaining 26
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Necklace skeletal muscle fibersHPOHP:0031238
- Frequent (30% to 79% of cases)
- PneumoniaHPOHP:0002090
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- 14 of 31 reported patients
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- 10 of 42 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.
- MTM1HGNC:7448
- Definitive · Ambry Genetics · X-linked · 2020
- Definitive · ClinGen · X-linked · 2019
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: X-linked myotubular myopathy
- Also called
- centronuclear myopathy, X-linkedMTMmyotubular myopathy, X-linked, X-linked recessiveX-linked centronuclear myopathyXLCNMXLMTM