Global Variome shared LOVD

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

Phenotype #0000163023 Individual ID 00214571 Associated disease LGMD Phenotype details lost ability to walk (HP:0006957) 30y Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein WB no CAPN3 90 / 30 kDa reduced, 60 kDa normal 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)

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