Phenotype #0000162865

Individual ID 00214413
Associated disease LGMD
Phenotype details CPK elevated (HP:0003236) 546
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 25y
Phenotype/Onset -
Protein WB CAPN3 absent 60 kDa moderate, IHC, DYSF 30% fibers deficient
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 2007-08-20 09:51:15 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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