Global Variome shared LOVD

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

Phenotype #0000164294 Individual ID 00215842 Associated disease LGMD Phenotype details calf hypertrophy; CPK elevated (HP:0003236) 3046; still able to walk (-HP:0006957) 31y Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 19y Phenotype/Onset weakness proximal lower extremities Protein IHC no DYSF, CAV3 normal, UTRN upregulated 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.