Phenotype #0000158874

Individual ID 00210308
Associated disease LGMD
Phenotype details progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared)
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
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 2011-09-30 19:14:59 +02:00 (CEST)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)