Global Variome shared LOVD

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

Phenotype #0000231417 Individual ID 00305570 Associated disease LGMD Phenotype details hyperCKemia with intermediate muscle weakness; difficulties in running and climbing stairs; elevated serum CK (5355 IU/L); running with difficulties; proximal muscle weakness; no calf hypertrophy; no tendon contractures; scapular winging; no muscle pain; muscle biopsy dystrophic Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2D Age/Examination 11y9m (11 years, 9 months) Age/Diagnosis - Age/Onset 9y10m Phenotype/Onset difficulties in running and climbing stairs Protein IHC SGCA severly reduced, SGCB severely reduced, SGCG 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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