Nemaline myopathy 8
Nemaline myopathy 8
Definition
An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.
Also known as KLHL40 nemaline myopathy, NEM8, nemaline myopathy 8, nemaline myopathy caused by mutation in KLHL40, nemaline myopathy type 8 — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |