Phenotype #0000143955

Individual ID 00183201
Associated disease MFM
Phenotype details 12y-bilateral pes cavus, slight dorsal scoliosis, neck/distal leg muscle weakness progressing to generalized wasting, restrictive cardiomyopathy (secondary enlargement both atria); muscle biopsy showed accumulation dark dense material throughout myofiber sarcoplasm (desmin positive), increment intermyofibrillar spaces, multiple core areas; reduced density myelinated axons, occurrence giant axons; 20y-died cardiac/respiratory failure
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-11-12 16:31:12 +01:00 (CET)
Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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