Global Variome shared LOVD

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Phenotype #0000326784 Individual ID 00436661 Associated disease LGMD2 Phenotype details CK level 1,257U/L; weakness muscles lower extremities/buttocks/thighs, difficulties climbing stairs/standing up/sitting down; 11y-Achilles tendon lengthening surgery; 18y-lost ability to walk Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 10y Protein - Owner name Nguyen Hoang Database submission license No license selected Created by Nguyen Hoang Date created 2023-09-27 03:54:24 +02:00 (CEST) Date last edited 2025-11-04 17:19:39 +01:00 (CET)

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