Global Variome shared LOVD

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

Phenotype #0000085857 Individual ID 00108263 Associated disease LGMD Phenotype details limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, no weakness, generalised hypertrophy, pain, EMG myopathic features, sponteneous activities at rest, biopsy mild fibre size variation; CPK 5000 Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <7y Phenotype/Onset pain & rippling Protein IHC CAV3 markedly reduced, DYSF weak, WB CAV3 absent Owner name Ottie O'Brien Database submission license No license selected Created by Ottie O'Brien Date created 2006-04-11 18:06:52 +02:00 (CEST) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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