Phenotype #0000143954

Individual ID 00183200
Associated disease MFM
Phenotype details toe walker as toddler; 7y-progressive leg weakness, fatigability, valgus ankle deformity; 11y-moderate proximal muscle weakness, thoracic scoliosis, rigid spine predominantly affecting cervical region, ECG restrictive cardiomyopathy (slightly large left atrium, trivial pulmonary/mitral regurgitation); 12y-rapid progression, marked weakness axial/proximal limb muscles, scapular winging, reduced forced vital capacity; 13y-respiratory insufficiency, intolerant for nocturnal ventilatory support; died after chest infection; raised CPK (15x)
Diagnosis/Initial MFM-B
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-6
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein BAG3 wide and faster migrating band
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 2010-03-11 21:40:57 +01:00 (CET)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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