Global Variome shared LOVD

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Phenotype #0000337378 Individual ID 00448143 Associated disease LGMDD4;LGMD1I Diagnosis/Initial Limb-girdle muscular dystrophy Diagnosis/Definite LGMDD4 Phenotype details see paper; ..., 57y-myalgia thighs, elevated circulating creatine kinase concentration (HP:0003236) 2000 U/L; 60y-waddling gait, CK level 5000 U/L; myopathy (HP:0003198), centrally nucleated skeletal muscle fibers (HP:0003687), proximal muscle weakness (HP:0003701) Inheritance Unknown Age/Examination 66yy Age/Diagnosis - Age/Onset - Phenotype/Onset WB near absent CAPN3 Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2024-02-22 14:40:07 +01:00 (CET) Date last edited 2025-08-04 11:59:53 +02:00 (CEST)

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