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 InternationalCreative Commons License
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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