Global Variome shared LOVD

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

Phenotype #0000209339 Individual ID 00274396 Associated disease MD Phenotype details proximal muscle weakness; muscle dystrophic pattern with loss of dysferlin immunoreactivity; elevated CK (1557 IU/L); ECG or echo normal; no family history Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 55y Age/Onset 44y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-30 09:59:36 +01:00 (CET) Date last edited N/A

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