Phenotype #0000220317

Individual ID 00286459
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., mild and painful muscle stiffness hands since young age; neurological examination showed percussion myotonia hands and calves and diffuse myotonic discharges on EMG; ET displayed same pattern as affected daughter; no eye closure myotonia
Inheritance Unknown
Age/Examination 53y (53 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-02-10 19:27:51 +01:00 (CET)
Date last edited N/A

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