nemaline myopathy 7
MONDO:0012538Mondo
Findings
No curated finding names nemaline myopathy 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012538), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
35 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
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 4 of 4 reported patients
- Frequent fallsHPOHP:0002359
- 2 of 2 reported patients
- Gowers signHPOHP:0003391
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients · Congenital onset
- 1 of 2 reported patients
- Increased variability in muscle fiber diameter
Show the remaining 23
- Neck muscle weaknessHPOHP:0000467
- 2 of 2 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 2 of 2 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 2 of 2 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 2 of 2 reported patients
- Z-band streamingHPOHP:0020203
- 1 of 1 reported patient
- Nemaline bodiesHPOHP:0003798
- 3 of 4 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.
- CFL2HGNC:1875
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: nemaline myopathy 7
- Also called
- CFL2 nemaline myopathyNEM7nemaline myopathy caused by mutation in CFL2nemaline myopathy type 7