Global Variome shared LOVD

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Phenotype #0000343741 Individual ID 00455149 Associated disease LGMD2 Inheritance Familial, autosomal recessive Diagnosis/Initial limb-girdle muscular dystrophy Age/Examination 39y (39 years) Diagnosis/Definite LGMDR2 Age/Diagnosis - Age/Onset 34y Phenotype/Onset - Phenotype details see paper; ..., mild dystrophic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles, distal ll muscles, paravertebral muscles; still ambulant; no contractures ; serum CK level 82 ukat/l; mild asymmentry of muscle weakness, muscle pain Protein IHC DYSF deficiency Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 20:00:32 +02:00 (CEST) Date last edited N/A

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