Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy

Abstract Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, clinical research in the limb-girdle...

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Bibliographic Details
Main Authors: Doris G. Leung, Alex E. Bocchieri, Shivani Ahlawat, Michael A. Jacobs, Vishwa S. Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris, Shannon Marraffino, Kathryn R. Wagner
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Neurology
Subjects:
FKRP
Whole-body MRI
Limb-girdle muscular dystrophy
Biomarkers
Deep learning
Convolutional neural network
Online Access:http://link.springer.com/article/10.1186/s12883-020-01774-5

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http://link.springer.com/article/10.1186/s12883-020-01774-5

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