Global Variome shared LOVD

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

Phenotype #0000231475 Individual ID 00305628 Associated disease MD Phenotype details Gardner-Medwin and Walton score 1; elevated serum CK 122x; calf atrophy Diagnosis/Initial proximodistal myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 22y Phenotype/Onset - Protein IHC DYSF positive Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-01 11:52:35 +02:00 (CEST) Date last edited N/A

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