Global Variome shared LOVD

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

Phenotype #0000295320 Individual ID 00402557 Associated disease LGMDR1;LGMD2A Phenotype details LGMDR1-Calpain 3 Related Diagnosis/Initial limb girdle muscle dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1-calpain-3 related Age/Examination 25y (25 years) Age/Diagnosis 16y Age/Onset 10y Phenotype/Onset lower limb weakness Protein - Owner name JA Bevilacqua Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by JA Bevilacqua Date created 2022-02-07 14:17:31 +01:00 (CET) Date last edited 2022-02-24 09:27:13 +01:00 (CET)

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