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- W2076386802 abstract "Abstract 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 gene 1 ( NDRG1 ) mutation responsible for this CMT4D phenotype was confirmed: p.R 148X . The exact molecular function of the NDRG1 protein has yet to be elucidated." @default.
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- W2076386802 date "2013-09-01" @default.
- W2076386802 modified "2023-10-16" @default.
- W2076386802 title "CMT4D (NDRG1 mutation): genotype-phenotype correlations" @default.
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- W2076386802 doi "https://doi.org/10.1111/jns5.12039" @default.
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