Global Variome shared LOVD

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

Phenotype #0000343193 Individual ID 00454538 Associated disease MD Phenotype details Easy to fall; positive Gowers' sign; hypertrophy gastrocnemius; limb muscle force 4; 10m walk 5.5 sec; elevated serum CK level (2408 U/L); ECG normal; no family history Diagnosis/Initial BMD/DMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2Q Age/Examination - Age/Diagnosis - Age/Onset 1y6m 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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