Global Variome shared LOVD

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

Phenotype #0000172178 Individual ID 00228249 Associated disease LGMD Phenotype details proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 9401, loss ambulation 13y, cardiac involvement Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-22 12:59:17 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.