Phenotype #0000119319

Individual ID 00146597
Associated disease LGMD2
Phenotype details EMG compatible with chronic myopathy, dilated cardiomyopathy; CPK 1500
Diagnosis/Initial dystrophy, muscular, limb-girdle, autosomal recessive
Diagnosis/Definite LGMD-2I
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset 30y
Phenotype/Onset -
Age/Diagnosis -
Protein IHC LAMA2 normal, DAG1 reduced and irregula
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 2007-08-31 17:40:57 +02:00 (CEST)
Date last edited 2012-03-09 18:26:59 +01:00 (CET)

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