Global Variome shared LOVD

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

Phenotype #0000231416 Individual ID 00305569 Associated disease LGMD Phenotype details hyperCKemia with intermediate muscle weakness; difficulties in running and jumping; elevated serum CK (8000 IU/L); running with difficulties; proximal muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2D Age/Examination 7y5m (7 years, 5 months) Age/Diagnosis - Age/Onset 2y Phenotype/Onset difficulties in running and jumping Protein IHC SGCA absent, SGCB severely reduced, SGCG reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-30 17:17:40 +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.