Global Variome shared LOVD

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

Phenotype #0000231714 Individual ID 00305868 Associated disease LGMD Phenotype details mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; distal weakness; elevated serum CK (max. 3245 IU/L); biopsy dystrophic; lobulated fiber; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR12 Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 47y Phenotype/Onset - Protein IHC DMD absent/reduced　　 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-02 12:45:49 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.