Global Variome shared LOVD

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Phenotype #0000359550 Individual ID 00474757 Associated disease LGMDR1;LGMD2A Phenotype details Elevated circulating creatine kinase concentration(HP:0003236), Difficulty climbing stairs(HP:0003551), Proximal muscle weakness(HP:0003701) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 16y (16 years) Age/Diagnosis 19y Age/Onset 16y Phenotype/Onset Elevated circulating creatine kinase concentration(HP:0003236) Protein - Owner name Gaoyuan Li Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gaoyuan Li Date created 2026-03-25 02:59:37 +01:00 (CET) Date last edited 2026-03-27 18:15:21 +01:00 (CET)

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