Phenotype #0000242279

Individual ID 00320228
Associated disease MYOP
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
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
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 InternationalCreative Commons License
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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