Global Variome shared LOVD

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Phenotype #0000143956 Individual ID 00183202 Associated disease MFM Phenotype details 5y-problems running 10y-diagnosis restrictive cardiomyopathy; 13y-heart transplantation, ventilator-dependent; global muscle weakness (predominantly proximal/respiratory muscles); muscle biopsy atrophic fibers, focal myofibrillar disorganization, dark inclusions (desmin prominence), moderate reduction large diameter myelinated fibers, visible loss smaller diameter fibers, occasional giant axons having thin/absent myelin sheaths Diagnosis/Initial myopathy, myofibrillar Inheritance Isolated (sporadic) Diagnosis/Definite MFM-6 Age/Examination - Age/Onset 5y 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 2017-03-31 14:13:45 +02:00 (CEST)

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