| Metabolic myopathy | |
|---|---|
 | |
| Hydrolysis of ATP | |
 | |
| Skeletal muscle contraction |
Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects (inborn errors of metabolism) that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.[1][2]
- ^ Urtizberea, Jon Andoni; Severa, Gianmarco; Malfatti, Edoardo (May 2023). "Metabolic Myopathies in the Era of Next-Generation Sequencing". Genes. 14 (5): 954. doi:10.3390/genes14050954. ISSN 2073-4425. PMC 10217901. PMID 37239314.
- ^ Tobon, Alejandro (December 2013). "Metabolic myopathies". Continuum (Minneapolis, Minn.). 19 (6 Muscle Disease): 1571–97. doi:10.1212/01.CON.0000440660.41675.06. ISSN 1538-6899. PMC 10563931. PMID 24305448.