Global Variome shared LOVD

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Phenotype #0000357757 Individual ID 00472962 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details Muscle weakness from the birth; Atonic seizures, between ages 5 to 12y . Elevated level of CPK; MuSK<0.01; and Acetylcholin receptor: 0.3. Muscle biopsy findings showed myopathic atrophy with some degenerative/regenerative fibers as well as focal endomysial fibrosis with no prominent lipid or glycogen excess and EMG-NCV findings were compatible with myopathic process at proximal and distal muscles without significant spontaneous activity Inheritance Familial, autosomal recessive 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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