Global Variome shared LOVD

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Phenotype #0000359960 Individual ID 00475246 Associated disease myotonia congenita (AD) Phenotype details see paper; ..., no eye lid myotonia, lid lag, tongue myotonia, myotonia during rapid voluntary muscle movements, muscle stiffness, muscle pain, percussion myotonia, handgrip myotonia, delayed relaxation muscle after contraction, no muscle hypertrophy, muscle weakness, no hypotonia, no hyporeflexia, no neonatal apnea, response to cold exposure, EMG myotonic discharges Diagnosis/Initial myotonia congenita Inheritance Isolated (sporadic) Diagnosis/Definite THD Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 07y 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 2026-04-07 14:11:14 +02:00 (CEST) Date last edited N/A

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