Global Variome shared LOVD

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Phenotype #0000231467 Individual ID 00305620 Associated disease MD Phenotype details Gardner-Medwin and Walton score 4; elevated serum CK 34x; calf atrophy; EMG myopathic Diagnosis/Initial Miyoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein IHC DYSF positive Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-01 11:52:35 +02:00 (CEST) Date last edited N/A

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