Global Variome shared LOVD

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

Phenotype #0000162593 Individual ID 00214141 Associated disease LGMD Phenotype details myalgia, calf hypertrophy; CPK elevated (HP:0003236) 7669 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein WB CAPN3 markedly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:05:57 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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