myofibrillar myopathy 3
Findings
No curated finding names myofibrillar myopathy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
Definition from the Mondo Disease Ontology (MONDO:0012215), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
39 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
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Muscle fiber splittingHPOHP:0003555
- 1 of 1 reported patient
- Abnormal muscle fiber myotilinHPOHP:0030226
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
Show the remaining 27
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Difficulty standingHPOHP:0003698
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
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.
- MYOTHGNC:12399
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
12 names
Resolves to: myofibrillar myopathy 3
- Also called
- autosomal dominant distal myopathy caused by mutation in MYOTautosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOTautosomal dominant limb-girdle muscular dystrophy type 1Adistal myotilinopathyLGMD1Amyofibrillar myopathy type 3myopathy, myofibrillar, type 3MYOT autosomal dominant distal myopathyMYOT autosomal dominant limb-girdle muscular dystrophyMYOT-related myofibrillar myopathymyotilinopathyspheroid body myopathy