Phenotype #0000348311

Individual ID 00460589
Associated disease MYOP
Phenotype details see paper; ..., slowly progressing proximal lower limb weakness beginning 45y–65y; serum creatine kinase (CK) levels normal to mildly elevated; EMF myopathic changes, myotonic discharges; some patients (III4, III5, III6) asymptomatic but showed EMG myopathic changes
Diagnosis/Initial myopathy
Inheritance Familial, autosomal dominant
Diagnosis/Definite MRUPAV
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-27 16:26:45 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.