Phenotype #0000163654

Individual ID 00215202
Associated disease LGMD
Phenotype details CPK elevated (HP:0003236) 2425; lost ability to walk (HP:0006957) 47y
Diagnosis/Initial dystrophy, muscular, limb-girdle, type 2B (LGMD-2B); cardiomyopathy, dilated
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 24y
Phenotype/Onset -
Protein IHC no DYSF at membrane, accumulation within fibers
Owner name Miriam Carl
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-24 21:14:02 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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