Global Variome shared LOVD

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

Phenotype #0000162693 Individual ID 00214241 Associated disease LGMD Phenotype details mild, incl. seizure (treated with valproate); CPK elevated (HP:0003236) >3000 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis 14y Age/Onset 8y Phenotype/Onset gait disturbance Protein WB no CAPN3, IHC normal DMD, SGCA, DYSF Owner name Marina Fanin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:05:58 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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