Global Variome shared LOVD

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

Phenotype #0000231424 Individual ID 00305577 Associated disease LGMD Phenotype details hyperCKemia without muscle weakness; post-exercise muscle pain; elevated serum CK (400 IU/L); asymptomatic hyperCKemia with or without exercise-induced myalgia; no muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; muscle pain; muscle biopsy mild myopathic changes Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2D Age/Examination 25y6m (25 years, 6 months) Age/Diagnosis - Age/Onset 10y Phenotype/Onset post-exercise muscle pain Protein IHC SGCA normal, SGCB slightly reduced, SGCG normal 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.