Global Variome shared LOVD

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Phenotype #0000321175 Individual ID 00430378 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite MMCKR Phenotype details see paper; ..., muscle cramping and stiffness on exertion, rhabdomyolysis; no apparent triggers; CK 500-3000 U/l, highest 32000; MRI muscle mild atrophy of quadratus femoris, subtle TIRM hyperintensities in the vastus lateralis Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 7y 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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