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Table 1 The 31 index patients diagnosed at our laboratory

From: Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

Classification

Gene

N indexes

N total

5

GJB1

10

18

PMP22dup

6

MPZ

2

4

GJB1

2

5

MPZ

2

MFN2

1

3

MPZ

3

8

 

NEFL

1

 
 

MFN2

4

 
  1. Classification of genetic variants in accordance with the recommendations from the IARC Unclassified Genetic Variants Working Group; 5 = definitely pathogenic, 4 = likely pathogenic, 3 = uncertain, 2 = likely not pathogenic, 1 = definitely not pathogenic [18].