Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125458 Individual ID 00103636 Associated disease LGMD Phenotype details elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), Gowers sign (HP:0003391) Diagnosis/Initial dystrophy, muscular, limb-girdle Inheritance Unknown Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 01y Phenotype/Onset - Protein muscle, IHC for LAMA2, residual expression Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-14 22:20:30 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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