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δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches

Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. Here we review the clinical implications of LGMD2F and discuss the current...

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Detalles Bibliográficos
Autores principales: Blain, Alison M, Straub, Volker W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156636/
https://www.ncbi.nlm.nih.gov/pubmed/21798091
http://dx.doi.org/10.1186/2044-5040-1-13
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author Blain, Alison M
Straub, Volker W
author_facet Blain, Alison M
Straub, Volker W
author_sort Blain, Alison M
collection PubMed
description Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. Here we review the clinical implications of LGMD2F and discuss the current understanding of the putative mechanisms underlying its pathogenesis. Preclinical research has benefited enormously from various animal models of δ-sarcoglycan deficiency, which have helped researchers to explore therapeutic approaches for both muscular dystrophy and cardiomyopathy.
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spelling pubmed-31566362011-08-17 δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches Blain, Alison M Straub, Volker W Skelet Muscle Review Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. Here we review the clinical implications of LGMD2F and discuss the current understanding of the putative mechanisms underlying its pathogenesis. Preclinical research has benefited enormously from various animal models of δ-sarcoglycan deficiency, which have helped researchers to explore therapeutic approaches for both muscular dystrophy and cardiomyopathy. BioMed Central 2011-03-17 /pmc/articles/PMC3156636/ /pubmed/21798091 http://dx.doi.org/10.1186/2044-5040-1-13 Text en Copyright ©2011 Blain and Straub; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Blain, Alison M
Straub, Volker W
δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title_full δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title_fullStr δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title_full_unstemmed δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title_short δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
title_sort δ-sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156636/
https://www.ncbi.nlm.nih.gov/pubmed/21798091
http://dx.doi.org/10.1186/2044-5040-1-13
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