Global Variome shared LOVD

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

Phenotype #0000058498 Individual ID 00078739 Associated disease LGMDR12;LGMD2L Phenotype details iliopsoas MRC 4.5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, no distal weakness ; raised CPK (HP:0003236) 4061; >61y walking (-HP:0006957) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset 0y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-02-14 22:37:07 +01:00 (CET) Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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