Global Variome shared LOVD

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Phenotype #0000303949 Individual ID 00411583 Associated disease myotonia congenita (AR) Phenotype details myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis Diagnosis/Initial non-dystrophic myotonia Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2022-06-20 13:07:42 +02:00 (CEST) Date last edited N/A

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