Global Variome shared LOVD

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Phenotype #0000359967 Individual ID 00475292 Associated disease LGMD Phenotype details see paper; ..., 40y-limb girdle weakness; scapular winging, waddling gait, severe weakness upperlower girdle muscles; EMG myopathic; serum CK levels elevated (1169 UI/l) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 74y (74 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 2026-04-08 09:46:33 +02:00 (CEST) Date last edited N/A

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