Global Variome shared LOVD

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Phenotype #0000358758 Individual ID 00473963 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details onset 10-13 year, Mild generalized muscle weakness; Difficulty walking, running & climbing steps; Muscle spasm with pain; Prominent calves; Mild respiratory problem; Chewing problem; Elevated level of CPK, LDH, SGOT & SGPT. Inheritance Familial, autosomal dominant Age/Examination 36y (36 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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