Global Variome shared LOVD

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

Phenotype #0000343715 Individual ID 00455123 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness shoulder and pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles, distal muscle; 65y-loss ambulation; no contractures Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 66y (66 years) Age/Onset 56y Phenotype/Onset - Age/Diagnosis - Protein normal IHC Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 20:00:32 +02:00 (CEST) Date last edited N/A

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