Phenotype #0000124828

Individual ID 00152485
Associated disease LGMD
Phenotype details inflammatory changes, no brain involvement, calf hypertrophy; CPK 2327; able to walk
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2N
Age/Examination -
Age/Diagnosis 2y
Age/Onset 1y2m
Phenotype/Onset elevated CKs
Protein DAG1 markedly reduced
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2008-08-14 17:11:39 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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