Global Variome shared LOVD

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Phenotype #0000203445 Individual ID 00265658 Associated disease LGMD Phenotype details Myoshi myopathy; elevated CK (7800 U/l); biopsy Muscular dystrophy with marked mitochondrial proliferation, absent dysferlin on IHC Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - 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 2019-09-30 11:53:15 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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