Global Variome shared LOVD

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Phenotype #0000343712 Individual ID 00455120 Associated disease LGMD2 Phenotype details see paper; ..., myopathic pattern, selective atrophy of type I fibers; 1st muscle weakness shoulder geirdles; muscle weakness shoulder and pelvic-femoral girdles; 50y-loss ambulation; no contractures ; serum CK level 47 ukat/l Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR1 Inheritance Familial, autosomal recessive Age/Examination 52y (52 years) Age/Onset 18y Phenotype/Onset - Age/Diagnosis - Protein IHC DYSF deficiency Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 20:00:32 +02:00 (CEST) Date last edited N/A

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