Global Variome shared LOVD

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Phenotype #0000228480 Individual ID 00301212 Associated disease neuropathy Diagnosis/Initial CMT2 (motor predominant) Diagnosis/Definite - Phenotype details mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Onset 14y Phenotype/Onset unable to stand on toes, walking difficulties Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-10 11:49:06 +02:00 (CEST) Date last edited N/A

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