Global Variome shared LOVD

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Phenotype #0000360521 Individual ID 00475846 Associated disease LGMD Phenotype details progressive muscle weakness affecting muscles pelvic and/or shoulder girdle, no cardiac involvemnet, no pulmonary involvement, no intellectual disability; EMG myopathic changes Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination - Age/Diagnosis - Age/Onset - 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 2026-04-10 18:57:42 +02:00 (CEST) Date last edited N/A

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