Global Variome shared LOVD

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

Phenotype #0000231674 Individual ID 00305828 Associated disease LGMD Phenotype details moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 2325 IU/L); biopsy dystrophic; lobulated fiber; nemaline body; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR1 Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset 33y Phenotype/Onset - Protein IHC DYSF 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.