Global Variome shared LOVD

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Phenotype #0000357062 Individual ID 00472253 Associated disease PGBM2 Phenotype details 0003198: Myopathy, 0003376: Steppage gait, 0003391: Gowers' sign Diagnosis/Initial Myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite PGBM2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-20 12:53:08 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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