Global Variome shared LOVD

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Phenotype #0000343190 Individual ID 00454535 Associated disease MD Phenotype details Transaminitis; no hypertrophy gastrocnemius; limb muscle force 5; unable to walk; elevated serum CK level (10481 U/L); no family history Diagnosis/Initial BMD/DMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination - Age/Diagnosis - Age/Onset 4m 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 2024-09-13 17:19:08 +02:00 (CEST) Date last edited N/A

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