Global Variome shared LOVD

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Phenotype #0000332168 Individual ID 00442821 Associated disease NMD Diagnosis/Initial SEPN1-related myopathy Diagnosis/Definite CMYP3 Phenotype details motor function measurement 20/32 score 0.438; not ambulant; respiratory support (predicted forced expiratory volume in first second 0.23,  difference in vital capacity between sitting and supine position -0.43); left ventricular ejection fraction 0.58; global longitudinal strain -0.17.0; QRS fragmentation; incomplete right bundle branch block Inheritance Familial, autosomal recessive Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 22:55:55 +01:00 (CET) Date last edited N/A

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