Phenotype #0000058619

Individual ID 00078860
Associated disease MD
Phenotype details adult onset weakness proximal muscle, atrophy shoulder girdle/lower limbs, Trendelenbur/ Gower signs; EMG myopathy; raised CPK (HP:0003236) 3184 U/l; >35y walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 24y
Phenotype/Onset walking difficulties
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 2012-11-16 15:05:13 +01:00 (CET)
Date last edited N/A

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.