Global Variome shared LOVD

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Phenotype #0000358293 Individual ID 00473498 Associated disease MD Phenotype details Sporadic case ,age 16y , started 6y with proximal lower muscle weakness, positive Gowers sign , calf pseudohypertrophy, exercise intolerance , weak dystrophins and sarcoglycan antibodies labelling in IHC, elevated CPK, myopathy process reported in EDX Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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