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Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings

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    Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers

    Multiple mitochondrial dysfunctions syndrome (MMDS) is an autosomal recessive disorder of systemic energy metabolism. This study is to present the diagnosis of two MMDS Chinese sufferers. Physical and auxiliar...

    Danqun **, Tian Yu, Le Zhang, Tao Wang, Jun Hu… in Journal of Molecular Neuroscience (2017)

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