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To date, eight different variants, including three frameshift mutations (37.5%), two missense mutations (25.0%), one nonsense mutation (12.5%), one copy number mutation (12.5%), and one six-base in-frame deletion (12.5%), have been reported in China in 10 patients from nine unrelated families (Table 1)

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It is always recommended to follow your healthcare professionals instructions when taking any medication or supplement

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The addition of nicotinamide precursor NAM in mitochondrial respiration-impaired cells restores the lysosomal function and limits the increased proinflammatory profile