Global Variome shared LOVD

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Phenotype #0000282244 Individual ID 00388704 Associated disease MYOP Phenotype details proximal muscle weakness; CK level 6800 IU/L; difficulty getting up from ground and climbing stairs, Calf hypertrophy; Most-affected muscles: Hip and knee extensors, ankle dorsiflexors Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein IHC no SGCB Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-04 20:51:09 +01:00 (CET) Date last edited N/A

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