Phenotype #0000106649

Individual ID 00133900
Associated disease LGMD
Phenotype details cardiac function normal; respiratory function normal; 75-90x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2C
Age/Examination -
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset -
Protein IHC SGCA partial, SGCB partial, SGCG absent, SGCD partial / WB SGCG 0%
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 13:54:56 +01:00 (CET)
Date last edited 2020-10-04 11:07:05 +02:00 (CEST)

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