Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358050 Individual ID 00473255 Associated disease MYOP Diagnosis/Initial mitochondrial myopathy Diagnosis/Definite - Phenotype details onset 2-3y ; Difficulty climbing steps; Muscle weakness, lower>upper limbs; Elevated CPK level; EMG-NCV: suggestive of non-inflammatory myopathy; Muscle biopsy: Mitochondrial myopathy; Echocardiography: TR (+). Parental consanguinity, in the presence of family history suspected genetic etiology. Inheritance Familial, autosomal recessive Age/Examination 5y (5 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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