Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000343188 Individual ID 00454533 Associated disease MD Phenotype details Gastrocnemius hypertrophy; no Gowers' sign; hypertrophy gastrocnemius; limb muscle force 4; 10m walk 5.8 sec; elevated serum CK level (1830 U/L); no family history Diagnosis/Initial BMD/DMD Inheritance Unknown Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 3y 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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