Phenotype #0000162372

Individual ID 00213920
Associated disease LGMD
Phenotype details CPK elevated (HP:0003236) 7.5x
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 23y
Phenotype/Onset -
Protein partial CAPN3 deficiency
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 2007-08-17 16:04:08 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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