Global Variome shared LOVD

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Phenotype #0000324253 Individual ID 00433875 Associated disease MD Phenotype details creatine kinase 4000–6000 (IU/L); 8y-muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy severe fiber size variation, striking patchy endomysial and perimysial inflammation, focal patchy aggregates of regenerating fibers, some of which contain vacuoles, inflammatory infiltrate composed of lymphocytes, significant numbers of eosinophils and rare neutrophils and is centered on myofibers as well as blood vessels; autism spectrum disorder, ADHD Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 16y (16 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 2023-03-15 17:16:36 +01:00 (CET) Date last edited N/A

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