Global Variome shared LOVD

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Phenotype #0000242273 Individual ID 00265766 Associated disease MYOP Phenotype details 7m-progressive scoliosis, poor weight gain; axial and proximal weakness; calf hypertrophy; normal CK level; EMG myopathic; 5y muscle biopsy slight variation in fiber size with increased number of internalized nuclei; areas devoid of oxidative staining, consistent with eccentric cores; uniform type 1 fiber predominance; EM large areas of disorganization and some diffusion of the line material; 19y-FVC 0.45; aortic coarctation, inferior vena cava s/p surgery; episode of supraventricular tachycardia, primary amenorrhea Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y (19 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 17:23:56 +01:00 (CET) Date last edited N/A

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