Global Variome shared LOVD

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

Phenotype #0000321176 Individual ID 00430379 Associated disease MYOP Phenotype details see paper; ..., recurrent muscle pain and tenderness on exertion; no overt CK spikes; CK 2000-3000 U/l, highest 5000; Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMCKR Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 2y 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 2023-01-19 17:29:53 +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.