GNE myopathy
Findings
No curated finding names GNE myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
Definition from the Mondo Disease Ontology (MONDO:0011603), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Fatty replacement of skeletal muscleHPOHP:0012548
- Very frequent (80% to 99% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Very frequent (80% to 99% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Very frequent (80% to 99% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Very frequent (80% to 99% of cases)
- Muscle fiber inclusion bodiesHPOHP:0100299
- Very frequent (80% to 99% of cases)
- Rimmed vacuolesHPOHP:0003805
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Hip flexor weaknessHPOHP:0012515
- Frequent (30% to 79% of cases)
- HypothyroidismHPOHP:0000821
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- Limited shoulder movementHPOHP:0006467
- Frequent (30% to 79% of cases)
- Limited wrist extensionHPOHP:0006251
- Frequent (30% to 79% of cases)
- Shoulder girdle muscle weaknessHPOHP:0003547
- 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.
- GNEHGNC:23657
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: GNE myopathy
- Also called
- distal myopathy with rimmed vacuolesdistal myopathy, Nonaka typeDMRVhereditary inclusion body myopathy type 2HIBM2IBM2inclusion body myopathy autosomal recessiveinclusion body myopathy type 2Nonaka myopathyquadriceps-sparing myopathy