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- W2117322802 abstract "A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported in a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co-segregation with the disease phenotype and is thus most likely the disease-causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations." @default.
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- W2117322802 date "2001-01-01" @default.
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- W2117322802 title "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E" @default.
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- W2117322802 doi "https://doi.org/10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a" @default.
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