Global Variome shared LOVD

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

Phenotype #0000161638 Individual ID 00213163 Associated disease LGMD Phenotype details 5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower's sign, muslce not hypertrophic, muscle biopsy dystrophic changes; walk-2.5y; CPK 3704 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2O Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC LAMA2, DMD, SGCA/B/G/D normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-12-12 22:17:00 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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