Global Variome shared LOVD

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

Phenotype #0000358191 Individual ID 00473396 Associated disease LGMD Phenotype details onset 3y, proximal lower and upper muscle weakness, elevated CPK,MUAPS myopathy reported in EMG, mild nonspecific myopathy atrophy reported in muscle biopsy Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 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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