Phenotype #0000163799

Individual ID 00215347
Associated disease LGMD
Phenotype details ankle contracture and weakness, CPK elevated (HP:0003236) 4840
Diagnosis/Initial LGMD;RSS
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis 50y
Age/Onset 35y
Phenotype/Onset ankle contracture and weakness
Protein IHC DYSF absent, WB DMD and DYSF absent
Owner name Rumiko Izumi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-24 21:14:03 +02:00 (CEST)
Date last edited 2020-05-02 17:15:36 +02:00 (CEST)

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