Global Variome shared LOVD

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Phenotype #0000282220 Individual ID 00388680 Associated disease MYOP Phenotype details distal muscle weakness, proximal muscle weakness; CK level 13500 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 14y (14 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein IHC no SGCG 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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