Global Variome shared LOVD

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

Phenotype #0000163019 Individual ID 00214567 Associated disease LGMD Phenotype details contractures; CPK elevated (HP:0003236) 13000 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset first symptoms upper and lower limbs Protein WB CAPN3 normal (60 kDa slightly reduced), altered autocatalytic activity Owner name Ann Curtis Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 12:02:23 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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