Phenotype #0000162953

Individual ID 00214501
Associated disease LGMD
Phenotype details invalidating LGMD
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein WB CAPN3 severly reduced
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 2007-11-16 18:26:00 +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.