Global Variome shared LOVD

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

Phenotype #0000359255 Individual ID 00474462 Associated disease MD Phenotype details ambulant with aid; creatine kinase level (12715 U/L); asymmetric; received steroid for 4y Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset distal weakness and difficulties in getting from a chair 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.