Phenotype #0000162550

Individual ID 00214098
Associated disease LGMD
Phenotype details 11y-proband calf weakness following high fever periods, diagnosis poliomyelitis; 25y-muscle biopsy severe inflammatory necrotizing myopathy; CPK elevated (HP:0003236) 5000; lost ability to walk (HP:0006957) 28y
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset calf weakness
Protein -
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 2007-08-17 16:04:09 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +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.