Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review

• Main Authors: M. Comella (Author), A. Collotta (Author), V. Pavone (Author), L. Ciccia (Author), A. Bellinvia (Author), C. Cerruto (Author), M. G. L. Biondi (Author), F. Pisani (Author), P. Pavone (Author)
• Format: Book
• Published: Hindawi Limited, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical feat...