Global Variome shared LOVD

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Phenotype #0000143957 Individual ID 00183203 Associated disease MFM Phenotype details predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 14y-cardiac transplant; 29y-ventilator dependent; severely disabled; muscle biopsy showed myofibrillar breakdown, desmin-reactive inclusions, Z-line streaming Diagnosis/Initial myopathy, myofibrillar Inheritance Isolated (sporadic) Diagnosis/Definite MFM-6 Age/Examination - Age/Onset 12y 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 2010-11-12 16:31:12 +01:00 (CET) Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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