Global Variome shared LOVD

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Phenotype #0000358203 Individual ID 00473408 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details Vertical inheritance pattern, muscle weakness started 14y , bulbar dysfunction, dysphagia, weight loss , generalized muscle atrophy, wheelchair boundaries , myopathy reported in EMG, chronic myopathy atrophy with type 1 fibers and many autophagic rimmed vacuoles reported in muscle biopsy, respiratory dysfunction, normal EEG and normal CPK. Inheritance Familial, autosomal dominant Age/Examination 37y (37 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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