Global Variome shared LOVD

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Phenotype #0000345928 Individual ID 00457464 Associated disease CMT Phenotype details see paper; ..., 5y-lower leg weakness,bilateral foot drop, gait disturbance; 12y-uses walker; 34y-muscle weakness/atrophy began, distal part lower limbs prominently involved, toe/heel gait defects Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-13 09:51:54 +01:00 (CET) Date last edited 2024-11-13 10:08:36 +01:00 (CET)

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