Global Variome shared LOVD

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Phenotype #0000358301 Individual ID 00473506 Associated disease LGMD Phenotype details sporadic case, age 14y , started 8y with proximal lower and muscle weakness, walking on heel diificulty, irritable myopathy reported in Edx, elevated CPK,ALT,AST and early stage of muscular dystrophyreported in muscle biopsy Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 14y (14 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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