Global Variome shared LOVD

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Phenotype #0000358040 Individual ID 00473245 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details onset 3y, Difficulty climbing steps; Muscle spasm; Respiratory muscle weakness; Gowers sign; EMG-NCV: suggestive of myotonic myopathy, R/O chronic myositis; Elevated CPK, LDH & Aldolase levels; Muscle biopsy: myopathic atrophy with some necrotic and degenerative/regenerative fibers and some small foci of perivascular chronic inflammation; IHC: gamma sarcoglycan with weak sarcolemmal labelling of all muscle fibers; Echocardiography: classic MVP, trivial MR & TR. There is parental consanguinity with absence of family history. Inheritance Unknown Age/Examination 45y (45 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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