Kelemu Abebe Gelaw, Yibeltal Assefa Atalay, Firehiwot Zerefu, Natnael Atnafu Gebeyehu
Delays in the decision to seek care and associated factors among mothers who delivered in rural health centers in Wolaita Zone, Southern Ethiopia
Frontiers in global women's health
superoxide dismutase 1 sod1 important antioxidant enzyme whose main function neutralise superoxide free radicals cytoplasm heterozygous variants sod1 responsible substantial percentage familial amyotrophic lateral sclerosis als cases recently several reports shown biallelic loss sod1 function results novel phenotype called infantile sod1 deficiency syndrome consistent recessive pattern inheritance distinguished typical adultonset als documented detailed family histories clinical data followed wholeexome sequencing family cosegregation analysis sanger sequencing facilitate comparisons relevant data fifteen previously reported patients sod1related neurodevelopmental disorders included study presents new turkish family two affected children exhibiting severe delayed motor development infancyonset loss motor skills axial hypotonia tetraspasticity impaired cognitive functions genetic analysis revealed novel homozygous frameshift variant sod1 c248dupg pasp84argfs8 computational biochemical studies shedding light mechanistic aspects sod1 dysfunction findings contribute affirmative report fourth biallelic variant resulting severe clinical phenotype reminiscent induced previously identified homozygous lossoffunction sod1 variants research advances understanding pathogenesis debilitating neurological syndrome also aligns ongoing intensive efforts comprehend address sod1linked als