Global Variome shared LOVD

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

Phenotype #0000231670 Individual ID 00305824 Associated disease LGMD Phenotype details severe (MRC grade <3/5); lower limbs and upper limbs equally affected; distal weakness; elevated serum CK (max. 1289 IU/L); biopsy dystrophic; lobulated fiber; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR1 Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 7y 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 2020-07-02 12:45:49 +02:00 (CEST) Date last edited N/A

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