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Table 1 Age of onset of CMT

From: A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

 

Age of onset

Total

 

< 10 y

10-30 y

> 30 y

asymptomatic > 50 y

 

Recessive forms

120 (98%)

3 (2%)

0

0

123

Dominant forms

11 (25%)

18 (41%)

9 (20%)

6 (14%)

44

   Domain affected:

     

   GST

3 (33%)

2 (22%)

4 (44%)

0

9

   Others

8 (23%)

16 (36%)

5 (14%)

6 (17%)

35

  1. Genotype-phenotype correlation analysis using GDAP1 locus-specific database data evaluating the age of onset according to mode of inheritance and affected domains in dominant forms. Values represent the number of patients for each situation; the corresponding percentages are shown in brackets. y: years; GST: glutathione S-transferase.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172