Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000117380 Individual ID 00144643 Associated disease hCK Phenotype details calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), no decreased muscle tone (-HP:0001290), decreased tendon reflexes (HP:0001315), no decreased muscle force, elevated serum CPK (HP:0000003236) 510 (normal 0-170) Diagnosis/Initial hyperCKemia Inheritance Familial, X-linked recessive Diagnosis/Definite dystrophy, muscular, Becker (BMD) Age/Examination 68y (68 years) Age/Diagnosis - Age/Onset - 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 2017-12-18 22:22:11 +01:00 (CET) Date last edited N/A

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