Global Variome shared LOVD

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Phenotype #0000321174 Individual ID 00430377 Associated disease MYOP Phenotype details see paper; ..., myalgia on exertion, rhabdomyolysis; no apparent triggers; CK 2000 U/l, highest 4810; MRI muscle mild hyperintensity in bilateral gastrocnemius muscles Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMCKR Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 2y 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 2023-01-19 17:29:53 +01:00 (CET) Date last edited N/A

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