Global Variome shared LOVD

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Phenotype #0000358750 Individual ID 00473955 Associated disease LGMD Phenotype details onset 8y, Muscle weakness, legs>arms, proximal>distal; Muscle wasting of legs; Mild facial weakness; Difficulty raising arms, walking, running & climbing steps; Loss of ambulation from 9y ago; Lordosis; Respiratory problem; EMG-NCV: myopathic process; Muscle biopsy: muscular dystrophy; Abnormal IHC findings for dystrophins, dysferlin and gamma sarcoglycan. Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 29y (29 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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