Global Variome shared LOVD

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

Phenotype #0000344082 Individual ID 00455528 Associated disease MD Phenotype details elevated CK level (98x) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR2 Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC no DYSF Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-11 17:12:29 +02:00 (CEST) Date last edited N/A

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