Global Variome shared LOVD

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Phenotype #0000242282 Individual ID 00320231 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details congenital hypotonia, knee contractures, feeding and respiratory difficulties; axial weakness; moderate generalized atrophy; CK normal; EMG myopathic; 10y-biopsy vastus lateralis, type 1 fiber predominance, occasional internalized nuclei; occasional fibers with areas devoid of oxidative staining; 13y-FVC 0.99; aortic coarctation and VSD s/p surgery; mild ophthalmoplegia, joint hypermobility, premature adrenarche Inheritance Familial, autosomal recessive Age/Examination 10y (10 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 2020-11-24 18:50:45 +01:00 (CET) Date last edited 2020-11-24 18:57:44 +01:00 (CET)

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