Global Variome shared LOVD

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

Phenotype #0000231430 Individual ID 00305583 Associated disease LGMD Phenotype details hyperCKemia with severe muscle weakness; delayed motor milestones; elevated serum CK (2247 IU/L); ambulant with support; generalized muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2E Age/Examination 12y10m (12 years, 10 months) Age/Diagnosis - Age/Onset 2y Phenotype/Onset delayed motor milestones Protein IHC SGCA absent, SGCB absent, SGCG severely reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-30 17:17:40 +02:00 (CEST) Date last edited N/A

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