Phenotype #0000106162

Individual ID 00133415
Associated disease LGMD
Phenotype details Moderate; cardiac function normal; respiratory function normal; 5x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Familial
Diagnosis/Definite LGMD2D
Age/Examination -
Age/Diagnosis -
Age/Onset 22y
Phenotype/Onset -
Protein IHC SGCA partial, SGCB normal, SGCG normal?
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 2008-01-19 13:59:01 +01:00 (CET)
Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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