Global Variome shared LOVD

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

Phenotype #0000163667 Individual ID 00215215 Associated disease LGMD Phenotype details Rapid; cardiac function normal; respiratory function mild restrictive; CPK elevated (HP:0003236) 9-17x Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Protein IHC DYSF absent / WB DYSF 0%, CAPN3 normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 19:59:06 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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