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Techniques We reported the medical span of a Chinese girl who had been identified as having late-onset MADD by the whole exome sequencing. The effects of variations on mRNA splicing were analyzed through transcript analysis in vivo and minigene splice assay in vitro. Outcomes The 6-month-old woman initially showed muscle mass weakness, muscular hypotonia, moderate myogenic damage, and fatty liver. The blood and urine metabolic evaluating by combination mass spectrometry advised MADD. Mole