Global Variome shared LOVD

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

Phenotype #0000343732 Individual ID 00455140 Associated disease LGMD2 Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles; still ambulant; no contractures ; serum CK level 96 ukat/l Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR3 Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Onset 8y Phenotype/Onset - Age/Diagnosis - Protein IHC absence or weak labelling SGCA, SGCB, SGCG, weak labelling DGCa, absence DYSF Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 20:00:32 +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.