Global Variome shared LOVD

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Phenotype #0000207663 Individual ID 00269797 Associated disease myotonia Phenotype details 1y-generalized muscle stiffness; now muscle hypertrophy, percussion myotonia with warm up phenomenon, electrical myotonia; decreased tendon reflexes on hands and legs, muscle force in proximal parts of hands and legs without any changes; father showed myotonic signs similar to son and was treated with acetazolamide 500 mg/day with no improvement Diagnosis/Initial Thomsen's myotonia Inheritance Familial, autosomal recessive Diagnosis/Definite Becker's myotonia Age/Examination 05y (5 years) Age/Onset 01y Phenotype/Onset - Protein E_Ivanova@dnalab.ru Owner name Evgeniya Ivanova Database submission license No license selected Created by Evgeniya Ivanova Date created 2019-12-09 04:59:18 +01:00 (CET) Date last edited 2019-12-09 12:49:19 +01:00 (CET)

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