Global Variome shared LOVD

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Phenotype #0000353111 Individual ID 00467959 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite myotonia congenita (AR) Phenotype details childhood onset; serum CPK level 63 U/L Inheritance Familial, autosomal recessive Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-04 16:13:53 +01:00 (CET) Date last edited N/A

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