Phenotype #0000162849

Individual ID 00214397
Associated disease LGMD
Phenotype details severe; lost ability to walk (HP:0006957); lost ability to walk (HP:0006957)
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset LGMD
Protein WB CAPN3 no 30 kDa to normal 90 kDa
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 16:10:33 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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