Global Variome shared LOVD

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

Phenotype #0000351872 Individual ID 00466509 Associated disease LGMD Phenotype details see paper; ..., 5y-elevated serum CK (5390 IU/L); muscle biopsy severe dystrophic pattern; decreased exercise tolerance in early childhood, proximal muscle weakness, able to walk unaided; learning disabilities; ataxia Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MPXPS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-09 11:05:26 +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.