Global Variome shared LOVD

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Phenotype #0000308494 Individual ID 00416983 Associated disease BMD Phenotype details Elevated circulating creatine kinase concentration (HP:0003236), Calf muscle hypertrophy (HP:0008981), Muscle spasm (HP:0003394), Exercise-induced myalgia (HP:0003738) Diagnosis/Initial BMD Inheritance Unknown Diagnosis/Definite - Age/Examination 40y (40 years) Age/Onset 30y Phenotype/Onset - Age/Diagnosis - Protein Mild dystrophic pattern with alterations in dystrophin staining. Owner name Alba Segarra Casas Database submission license Creative Commons Attribution 4.0 International Created by Alba Segarra Casas Date created 2022-09-12 12:45:59 +02:00 (CEST) Date last edited 2022-09-12 16:05:06 +02:00 (CEST)

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