Global Variome shared LOVD

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Phenotype #0000358087 Individual ID 00473292 Associated disease LGMD Phenotype details onset 20y with lower muscle weakness & abnormal gait; Muscle weakness, lower>upper, proximal>distal; Waddling gait; Gowers sign; EMG-NCV: compatible with a myopathic process with spontaneous activity (irritable myopathy); Muscle biopsy: early stage of muscular dystrophy; Increased CPK. Consanguineous parents. Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 34y (34 years) 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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