Global Variome shared LOVD

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Phenotype #0000309127 Individual ID 00413831 Associated disease hCK Phenotype details asymptomatic hyper-CKemia (2,897-4,717 IU/L) ; no delayed motor milestones, no exercise-induced muscle pain, no cramps; mild calf hypertrophy, no muscle weakness; MRI muscle no muscle fatty infiltration pelvis/thigh muscles; muscle biopsy myopathic changes, clusters of necrotic and regenerating muscle fibers, few hypertrophic, atrophic, and hypercontracted muscle fibers, small number internal nuclei Diagnosis/Initial incidental finding hyper-CKemia Inheritance Unknown Diagnosis/Definite BMD Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC severe reduction dystrophin-N, slight reduction dystrophin-C, and positive expression dystrophin-R Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2022-09-22 21:47:38 +02:00 (CEST) Date last edited N/A

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