Global Variome shared LOVD

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Phenotype #0000282230 Individual ID 00388690 Associated disease MYOP Diagnosis/Initial - Diagnosis/Definite - Phenotype details proximal muscle weakness; CK level 4226 IU/L; Soleus and Medial Gastrocnemius muscle MRI showing fatty replacement and atrophy; Toe walking, difficulty climbing stairs and getting up from ground, Winging of scapula and tendo-achilis contractures; Most affected muscles: Serratus anterior, Hip adductors, iliopsoas, hamstrings and tibialis anterior Inheritance Familial, autosomal recessive Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 29y 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 2021-11-04 20:51:09 +01:00 (CET) Date last edited N/A

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