Global Variome shared LOVD

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Phenotype #0000092730 Individual ID 00104605 Associated disease hCK Phenotype details elevated CK levels (up to 15,000 IU/I); 5y-muscle biopsy dystrophic pattern, IHC no dystrophin, tiptoe walking, behavioral problems; 13y-still able to walk without aids, no assistance climbing stairs, mild exercise intolerance, proximal weakness, pseudohypertrophic calves, no Gowers’ sign, cardiopulmonary no pathologically findings Diagnosis/Initial high CK Inheritance Unknown Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset elevated CK levels (chance obseervation) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-05-19 09:48:39 +02:00 (CEST) Date last edited N/A

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