Global Variome shared LOVD

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Phenotype #0000242279 Individual ID 00320228 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details 5y-proximal muscle weakness; slowly progressive childhood onset proximal muscle weakness; CK 95 U/L; ECG, left ventricular hypertrophy; 55y-ECG left ventricular hypertrophy; episode of pneumonia with respiratory failure, difficulty weaning of ventilator; 55y-nighttime BiPAP Inheritance Familial, autosomal recessive Age/Examination 55y (55 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 18:44:26 +01:00 (CET) Date last edited 2020-11-24 18:47:06 +01:00 (CET)

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