Phenotype #0000106030

Individual ID 00133283
Associated disease LGMDR5;LGMD2C
Phenotype details clinical grade V; elevated CPK (HP:0003236); >17y-inable to walk (HP:0002540)
Diagnosis/Initial severe autosomal recessive muscular dystrophy, North African type (SCARMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 7y
Age/Onset 7y
Phenotype/Onset difficulty climbing stairs/running
Protein IHC/WB SGCA trace
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 2007-07-02 13:52:57 +02:00 (CEST)
Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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