Global Variome shared LOVD

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Phenotype #0000143953 Individual ID 00183199 Associated disease MFM Phenotype details 14y-restrictive respiratory insufficiency, required assisted night ventilation; 15y-hypernasal speech, axial and moderately severe distal more than proximal muscle weakness; 17y-increased spinal stiffness/proximal weakness, EMG and nerve conduction myopathic motor unit potentials, axonal and demyelinating peripheral neuropathy, ECG hypertrophic cardiomyopathy; raised CPK (6x) Diagnosis/Initial MFM-B Inheritance Isolated (sporadic) Diagnosis/Definite MFM-6 Age/Examination - Age/Onset 13y Phenotype/Onset scoliosis, rigid spine, easy fatigability Protein BAG3 wide and faster migrating band Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-03-11 21:40:57 +01:00 (CET) Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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