Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125422 Individual ID 00102724 Associated disease MD Phenotype details dystrophy, muscular, limb-girdle; gait mild valgus posture both feet, reflexes sluggish, no muscle pseudohypertrophy/wasting; muscle biopsy overtly dystrophic; 7y-Gowersí manoeuvre; CPK: 4025-4621 UI/L; s7m, w23m Diagnosis/Initial dystrophy, muscular Inheritance Familial Diagnosis/Definite - Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 30y? Phenotype/Onset Walking and limb movement disabilities Protein normal LAMA2 IHC Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-01 17:46:39 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.