myopathy, distal, 6, adult-onset, autosomal dominant
MONDO:0032853Mondo
Findings
No curated finding names myopathy, distal, 6, adult-onset, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Autophagic vacuolesHPOHP:0003736
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Elevated circulating creatine kinase activityHPOHP:0003236
- Foot dorsiflexor weaknessHPOHP:0009027
- Gait disturbanceHPOHP:0001288
- Increased variability in muscle fiber diameterHPOHP:0003557
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- Proximal muscle weaknessHPOHP:0003701
- Rimmed vacuolesHPOHP:0003805
- Type 1 muscle fiber predominanceHPOHP:0003803
- Z-band streamingHPOHP:0020203
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.
- ACTN2HGNC:164
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · Broad Center for Mendelian Genomics · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: myopathy, distal, 6, adult-onset, autosomal dominant
- Also called
- myopathy, distal, 6, adult onset