Global Variome shared LOVD

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Phenotype #0000361272 Individual ID 00476599 Associated disease LGMD Phenotype details see paper; ..., weakness lower limbs; proximal limb atrophy; scapular winging; walks using aids; elevated serum CL level (2769U/L) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 10y 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 2026-04-14 13:30:19 +02:00 (CEST) Date last edited N/A

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