期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 18, 期 3, 页码 261-265出版社
WILEY
DOI: 10.1111/jns5.12039
关键词
Charcot-Marie-Tooth disease; CMT4D; electron microscopy; HSMN-Lom; NDRG1
Charcot-Marie-Tooth (CMT) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a CMT4 sub-type. The characteristic N-Myc downstream-regulated gene1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. The exact molecular function of the NDRG1 protein has yet to be elucidated.
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