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doi: 10.1024/0300-9831.71.4.217

There are also other genetic causes of muscle weakness with MADD-like acylcarnitine profile such as biallelic pathogenic variants in genes-encoding enzymes involved in riboflavin metabolism ( FLAD1 , SLC25A32 , SLC52A1 , SLC52A2 , SLC52A3 ) [19] and pathogenic variants in mtDNA [23]

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