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

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...

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出版年:	Case Reports in Pediatrics
主要な著者:	M. Comella, A. Collotta, V. Pavone, L. Ciccia, A. Bellinvia, C. Cerruto, M. G. L. Biondi, F. Pisani, P. Pavone
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2022-01-01
オンライン･アクセス:	http://dx.doi.org/10.1155/2022/3793226