Phenotype #0000359265

Global Variome shared LOVD

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

Individual ID	00474472
Associated disease	MD
Phenotype details	31y-wheelchair; creatine kinase level (11000 U/L)
Diagnosis/Initial	Myoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	difficulty climbing stairs
Protein	-
Owner name	Johan den Dunnen
Database submission license
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.