Global Variome shared LOVD

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

Phenotype #0000166417 Individual ID 00217967 Associated disease CCD Phenotype details Severe generalized muscle weakness; ventilatory assistance; ophthalmoplegia; facial diplegia; severe kyphoscoliosis; joint contractures; CPK not elevated (-HP:0003236); not walking Diagnosis/Initial central core disease Inheritance Isolated (sporadic) Diagnosis/Definite CCD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Hypotony; respiratory insufficiency; swallowing difficulties Protein reduced expression in WB (~14%) Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-05-18 11:57:19 +02:00 (CEST) Date last edited 2012-03-09 20:05:16 +01:00 (CET)

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