Global Variome shared LOVD

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

Phenotype #0000164279 Individual ID 00215827 Associated disease LGMD Phenotype details muscle biopsy amyloid, calf hypertrophy; CPK elevated (HP:0003236) 9468; lost ability to walk (HP:0006957) 46y Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 27y Phenotype/Onset weakness proximal lower extremities Protein IHC severely reduced DYSF, CAV3/UTRN normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-01-03 10:37:11 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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