Global Variome shared LOVD

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Phenotype #0000358565 Individual ID 00473770 Associated disease CMT Phenotype details onset:4y with imbalance; Progressive disorder; Not able to walk independently; Difficulty climbing steps, running and rising from seated position; Pos gowers sign; Distal muscle weakness in legs; Ataxia; Hand tremor; Thenar atrophy; Claw toes, feet; Hearing loss from 10y; CPK:314; LDH:241; EMG-NCV:chronic axonal sensorimotor polyneuropathy; MLPA-CMT:no del/dup Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 66y (66 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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