Global Variome shared LOVD

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

Phenotype #0000292101 Individual ID 00399013 Associated disease NMD Diagnosis/Initial COL6-realted myopathy Diagnosis/Definite - Phenotype details serum CK 749 U/L; reduced collagen vi expression in skin biopsy Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-15 16:40:49 +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.