CLINICAL AND MOLECULAR EVIDENCE OF POSSIBLE TRUE DIGENIC INHERITANCE FOR MFN2/GDAP1 GENES IN CHARCOT-MARIE-TOOTH DISEASE

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Charcot-Marie-Tooth disease (CMT) has an extensive molecular basis and is characterized by a progressive motor and sensory polyneuropathy, either of demyelinating, axonal or intermediate type [1]. The mitofusin 2 (MFN2) gene encodes a key protein involved in the mitochondrial fusion process [2] and energy metabolism [3], its pathogenic variants are associated with CMT of autosomal dominant (AD) inheritance, although autosomal recessive (AR) cases have been described [4,5]. The GDAP1 gene codes for the ganglioside-induced differentiation associated protein 1, which is also involved in the mitochondrial dynamics and bioenergetics [3,6] and its mutations are associated with several forms of CMT, including AR and AD [7].

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