Global Variome shared LOVD

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Phenotype #0000360174 Individual ID 00475499 Associated disease LGMD Phenotype details see paper; ..., proximal lower limb weakness, shortening of achilles tendon; progressive muscle weakness, hyperlordosis; ambulant; contractures; elevated CK level (4267 U/L); muscle biopsy dystrophic pattern, increased endomysial connective tissue Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 25y 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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