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Table 2 Walking ability

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

  Walking disability Total
  Independent Technical assistance Weelchair-bound  
Recessive forms ≤ 30 y 23 (32.9%) 28 (40%) 19 (27.1%) 70
> 30 y 0 6 (24%) 19 (76%) 25
   missense/missense ≤ 30 y 16 (45.7%) 10 (28.6%) 9 (25.7%) 35
   > 30 y 0 5 (50%) 5 (50%) 10
   truncating/truncating ≤ 30 y 6 (22.2%) 13 (48.2%) 8 (29.6%) 27
   > 30 y 0 1 (6.7%) 14 (93.3%) 15
   missense/truncating ≤ 30 y 1 (12.5%) 5 (62.5%) 2 (25%) 8
   > 30 y 0 0 0 0
Dominant forms ≤ 30 y 8 (73%) 3 (27%) 0 11
> 30 y 28 (78%) 5 (14%) 3 (8%) 36
  1. Genotype-phenotype correlation analysis using GDAP1 locus-specific database data evaluated walking ability according to the mode of inheritance and the predicted effect on the protein in the recessive forms of CMT. Values represent the number of patients for each situation; the corresponding percentages are shown in brackets. y: years.