Global Variome shared LOVD

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Phenotype #0000360172 Individual ID 00475497 Associated disease LGMD Phenotype details see paper; ..., proximal lower limb weakness; progressive lower/upper limb muscle weakness, myalgia; ambulant; calf hypertrophy; elevated CK level (1172 U/L); slightly increased fiber size, increased nuclei, atrophic cells Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 24y 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 2026-04-10 13:38:02 +02:00 (CEST) Date last edited N/A

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