Phenotype #0000106233

Individual ID 00133486
Associated disease LGMD
Phenotype details severe, no cardiac involvement; no respiratory involvement; no skeletal deformity; >10y-inable to walk (HP:0002540); 10y-12297 elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2D
Age/Examination -
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset -
Protein WB SGCA severely reduced, SGCG reduced, DAG1 slightly reduced, DMD 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 2009-06-27 16:16:38 +02:00 (CEST)
Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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