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    Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A

    Homozygous or compound heterozygous mutations in the GDAP1 gene cause Charcot–Marie–Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically...

    HUIQIN XUE, NEVEN MAKSEMOUS, DAVID SIDHOM, LAN MA, SHAOHUI CHEN… in Journal of Genetics (2021)