AIFM1 and X-linked Charcot-Marie-Tooth disease type 4: In the study of Cowchock Syndrome caused by AIFM1 p. E493V variant, Tunel assay of muscle biopsy showed a large number of apoptotic cells in the samples of the mutated individuals, while little or no staining was detected in the muscles of healthy controls (Rinaldi et al., 2012).