Phenotype #0000164297

Individual ID 00215845
Associated disease LGMD
Phenotype details CPK elevated (HP:0003236) 10,147; lost ability to walk (HP:0006957) 24y
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset weakness proximal lower extremities
Protein IHC no DYSF, CAV3 normal, UTRN upregulated
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 2012-01-03 10:37:11 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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