CFL2 was first reported in relation to autosomal recessive nemaline myopathy 7 in 2007 (Agrawal PB, et al., 2007, PMID: 17160903). At least 9 unique variants (e.g. missense, nonsense, and frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 7 probands in six publications (PMIDs: 17160903, 22560515, 29457652, 24610938, 27848944, 27447704). Variants in this gene segregated with disease in 3 additional family members. This gene-disease relationship is supported by its biochemical function in actin-filament dynamics (PMID: 26996939), its expression in skeletal muscle (PMID: 11422377), and at least two knockout mouse models (PMIDs: 22343409, 2459838). In summary, there is strong evidence to support the relationship between CFL2 and autosomal recessive nemaline myopathy 7.
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