Global Variome shared LOVD

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Phenotype #0000358068 Individual ID 00473273 Associated disease LGMD Phenotype details parents multiple patients, onset 19y , proximal lower muscle weakness, walking difficulty, lordosis , axial muscle weakness, myopathic pattern in EMG, myopathic atrophy with fibrosis and fatty replacement reported in muscle biopsy, sarcolemmal labelling for six examined antibodies reported in IHC, and normal CPK Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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