Global Variome shared LOVD

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

Phenotype #0000359248 Individual ID 00474455 Associated disease MD Phenotype details 32y-wheelchair; creatine kinase level (8713 U/L); asymmetric; marked intrafamilial variability Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset exercise-related pain and difficulties in running Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-17 19:02:00 +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.