Global Variome shared LOVD

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

Phenotype #0000172138 Individual ID 00228208 Associated disease LGMD Phenotype details muscle weakness lower extrimities proximodistal; involvement proximal muscles upper limb/shoulder girdle in disease course; serum CK 2204; no caridac involvement Diagnosis/Initial LGMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2L Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein no muscle available Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-20 15:19:47 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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