Phenotype #0000106372

Individual ID 00133625
Associated disease LGMD
Phenotype details severe, no cardiac involvement; respiratory involvement; scoliosis; 25y-inable to walk (HP:0002540); 8812 (12y) elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset -
Protein WB SGCA reduced, SGCG absent, DAG1 reduced, DMD slightly reduced/normal
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-06-28 12:14:45 +02:00 (CEST)
Date last edited 2020-10-04 11:06:22 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.