Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Findings
No curated finding names Emery-Dreifuss muscular dystrophy 7, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.
Definition from the Mondo Disease Ontology (MONDO:0013677), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
7 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.
- Neck muscle weaknessHPOHP:0000467
- 2 of 2 reported patients
- Proximal amyotrophyHPOHP:0007126
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 2 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 2 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 2 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 2 reported patients
- Muscular dystrophyHPO
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.
- TMEM43HGNC:28472
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
2 names
Resolves to: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
- Also called
- autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy