Global Variome shared LOVD

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

Phenotype #0000231414 Individual ID 00305567 Associated disease LGMD Phenotype details hyperCKemia without muscle weakness; asymptomatic hyperCKemia; elevated serum CK (6069 IU/L); asymptomatic hyperCKemia with or without exercise-induced myalgia; no muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; no muscle pain; muscle biopsy mild myopathic changes Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2D Age/Examination 4y7m (4 years, 7 months) Age/Diagnosis - Age/Onset 3y11m Phenotype/Onset asymptomatic hyperCKemia Protein IHC SGCA slightly reduced, SGCB slightly reduced, SGCG normal 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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