Clinical Determinants of Disease Progression in Patients With Beta-Sarcoglycan Gene Mutations

Clinical Determinants of Disease Progression in Patients With Beta-Sarcoglycan Gene Mutations

Background: Limb-girdle muscular dystrophy 2E (LGMD 2E), recently renamed as autosomal recessive limb-girdle muscular dystrophy-4 (LGMDR4), is characterized by the lack of beta-sarcoglycan, normally expressed in skeletal muscles and cardiomyocytes. We hypothesized that progressive respiratory and le...

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Bibliographic Details
Main Authors: Giulia Bruna Marchetti, Luca Valenti, Yvan Torrente
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Neurology
Subjects:
limb-girdle muscular dystrophy
type 2E
creatine kinase
respiratory function tests
echocardiography
disease progression
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.657949/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.657949/full

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