Phenotype #0000164286

Individual ID 00215834
Associated disease LGMD
Phenotype details calf hypertrophy; CPK elevated (HP:0003236) 428; lost ability to walk (HP:0006957) 43y
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 6y
Phenotype/Onset weakness proximal lower extremities
Protein IHC no DYSF, CAV3/UTRN 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 2012-01-03 10:37:11 +01:00 (CET)
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.