Phenotype #0000163523

Individual ID 00215071
Associated disease LGMD
Phenotype details Histopathology of muscle showed inflammation and myopathic changes. ; CPK highly elevated
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein Reduced staining against alpha dystroglycan
Owner name Jaya Punetha
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-12-10 16:57:10 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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