Global Variome shared LOVD

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

Phenotype #0000106735 Individual ID 00133986 Associated disease LGMD Phenotype details muscle weakness lower extremities proximal; involvement proximal muscles upper limb/shoulder girdle at presentation; serum CK 2800; no cardiac involvement Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2C Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB gamma-sarcglycan absent Owner name Ieke Ginjaar Database submission license No license selected Created by Ieke Ginjaar Date created 2009-09-30 21:57:12 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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