nemaline myopathy 2
Findings
No curated finding names nemaline myopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
Definition from the Mondo Disease Ontology (MONDO:0009725), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Weakness of facial musculatureHPOHP:0030319
- 6 of 7 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 5 of 7 reported patients
- Nemaline bodiesHPOHP:0003798
- 4 of 7 reported patients
- Calf muscle pseudohypertrophyHPOHP:0003707
- 3 of 7 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 3 of 7 reported patients
- High palateHPOHP:0000218
- 3 of 7 reported patients
- Narrow mouthHPO
Show the remaining 7
- Muscle fiber splittingHPOHP:0003555
- 1 of 7 reported patients
- Rimmed vacuolesHPOHP:0003805
- 1 of 7 reported patients · Young adult onset
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 7 reported patients
- Steppage gaitHPOHP:0003376
- 1 of 7 reported patients
- Sternocleidomastoid amyotrophyHPOHP:0012036
- 1 of 7 reported patients
- Thenar muscle atrophyHPOHP:0003393
- 1 of 7 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.
- NEBHGNC:7720
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
4 names
Resolves to: nemaline myopathy 2
- Also called
- NEB nemaline myopathyNEM2nemaline myopathy caused by mutation in NEBnemaline myopathy type 2