Phenotype #0000164304

Individual ID 00215852
Associated disease LGMD
Phenotype details proximal muscular weakness lower limbs; CPK elevated (HP:0003236) 8460
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 18y
Phenotype/Onset exercise-induced muscle pain
Protein IHC no DYSF
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-24 21:14:03 +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.