Global Variome shared LOVD

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

Phenotype #0000353592 Individual ID 00468440 Associated disease LGMDR3;LGMD2D Phenotype details delayed motor milestones, difficulty running/climbing stairs,; progressive limb-girdle muscle weakness, proximal greater than distal; elevated serum CK; severe dilated cardiomyopathy; wheelchair-bound in adulthood Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR3 Age/Examination 41y (41 years) Age/Diagnosis 41y Age/Onset - Phenotype/Onset delayed motor milestones, difficulty running/climbing stairs Protein - Owner name Mariana Costa Taveira Database submission license No license selected Created by Mariana Costa Taveira Date created 2025-11-08 20:17:54 +01:00 (CET) Date last edited 2025-11-11 11:37:15 +01:00 (CET)

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