Global Variome shared LOVD

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

Phenotype #0000222786 Individual ID 00289153 Associated disease BMD/DMD Diagnosis/Initial DMD Diagnosis/Definite LGMD2A Phenotype details see paper; ..., 6y-diagnosis DMD (muscle weakness, hypertrophic calf, toe walking, early primary contractures, moderate hyperlordosis, elevated serum creatine kinase level (8000 U/L)); 10y-biopsy atypical features suggested histiocytosis or neural damage; 12y-MRI fatty degeneration predominantly posterior region thigh Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein IHC normal DMD, WB CAPN3 normal/borderline Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-03-01 16:50:48 +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.