Kabzinska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochanski A. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation. Acta Biochim Pol 2014; 61: 739–744.
Cassereau J, Casasnovas C, Gueguen N, et al. Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT. Neurology 2011; 76: 1524–1526.
Vital A, Latour P, Sole G, et al. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations. Neuromuscul Disord 2012; 22: 735–741.
Kostera-Pruszczyk A, Kosinska J, Pollak A, et al. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2014; 19: 242–245.
Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 2006; 63: 112–117.