Global Variome shared LOVD

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

Phenotype #0000353058 Individual ID 00467906 Associated disease LGMD Phenotype details proximal muscle weakness; no calf hypertrophy; no cardiac involvement; still ambulant; elevated serum creatine kinase level (80x); EMG myogenic Diagnosis/Initial limb-girdle muscualr dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR3 Age/Examination - Age/Diagnosis 7y Age/Onset 7y 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 2025-11-03 15:52:38 +01:00 (CET) Date last edited N/A

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