Phenotype #0000163723

Individual ID 00215271
Associated disease LGMD
Phenotype details Moderate; CPK elevated (HP:0003236) 6x
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 55y
Phenotype/Onset -
Protein IHC DYSF absent / WB DYSF 30%
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 2007-12-28 19:59:06 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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