Sarcoglycanopathies: state of the art and therapeutic perspectives
Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scap...
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description | Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked increase of serum CK levels. The first symptoms appear during the first decade, the loss of ambulation occurring often during the second decade. Lesions observed on the muscle biopsy are dystrophic. This is associated with a decrease or an absence of immunostaining of the sarcoglycan corresponding to the mutated gene and, to a lesser degree, of the other three sarcoglycans. Many mutations have been reported in the four incriminated genes and some of them are prevalent in certain populations. To date, there is no curative treatment, which does not prevent the development of many clinical trials, especially in gene therapy. |
doi_str_mv | 10.1051/medsci/2020243 |
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They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked increase of serum CK levels. The first symptoms appear during the first decade, the loss of ambulation occurring often during the second decade. Lesions observed on the muscle biopsy are dystrophic. This is associated with a decrease or an absence of immunostaining of the sarcoglycan corresponding to the mutated gene and, to a lesser degree, of the other three sarcoglycans. Many mutations have been reported in the four incriminated genes and some of them are prevalent in certain populations. To date, there is no curative treatment, which does not prevent the development of many clinical trials, especially in gene therapy.</description><identifier>ISSN: 0767-0974</identifier><identifier>EISSN: 1958-5381</identifier><identifier>DOI: 10.1051/medsci/2020243</identifier><identifier>PMID: 33427632</identifier><language>eng ; fre</language><publisher>France: EDP Sciences</publisher><subject>Biochemistry, Molecular Biology ; Biotechnology ; Disease Progression ; Genetics ; Human genetics ; Humans ; Life Sciences ; Molecular biology ; Muscular Dystrophies, Limb-Girdle - classification ; Muscular Dystrophies, Limb-Girdle - diagnosis ; Muscular Dystrophies, Limb-Girdle - genetics ; Muscular Dystrophies, Limb-Girdle - therapy ; Mutation ; Neurology - methods ; Neurology - trends ; Sarcoglycanopathies - diagnosis ; Sarcoglycanopathies - epidemiology ; Sarcoglycanopathies - genetics ; Sarcoglycanopathies - therapy ; Therapies, Investigational - methods ; Therapies, Investigational - trends</subject><ispartof>M.S. 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Médecine sciences</title><addtitle>Med Sci (Paris)</addtitle><description>Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked increase of serum CK levels. The first symptoms appear during the first decade, the loss of ambulation occurring often during the second decade. Lesions observed on the muscle biopsy are dystrophic. This is associated with a decrease or an absence of immunostaining of the sarcoglycan corresponding to the mutated gene and, to a lesser degree, of the other three sarcoglycans. Many mutations have been reported in the four incriminated genes and some of them are prevalent in certain populations. To date, there is no curative treatment, which does not prevent the development of many clinical trials, especially in gene therapy.</description><subject>Biochemistry, Molecular Biology</subject><subject>Biotechnology</subject><subject>Disease Progression</subject><subject>Genetics</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Molecular biology</subject><subject>Muscular Dystrophies, Limb-Girdle - classification</subject><subject>Muscular Dystrophies, Limb-Girdle - diagnosis</subject><subject>Muscular Dystrophies, Limb-Girdle - genetics</subject><subject>Muscular Dystrophies, Limb-Girdle - therapy</subject><subject>Mutation</subject><subject>Neurology - methods</subject><subject>Neurology - trends</subject><subject>Sarcoglycanopathies - diagnosis</subject><subject>Sarcoglycanopathies - epidemiology</subject><subject>Sarcoglycanopathies - genetics</subject><subject>Sarcoglycanopathies - therapy</subject><subject>Therapies, Investigational - methods</subject><subject>Therapies, Investigational - trends</subject><issn>0767-0974</issn><issn>1958-5381</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kM1Lw0AQxRdRbKxePcpePcTOfifealErBDyo5zC72ZhI24TsttD_vilVeYcZ3vwYZh4htwweGCg2W_squHbGYZQUZyRhucpSJTJ2ThIw2qSQGzkhVyH8AHCmuLgkEyEkN1rwhDx94OC679Xe4abrMTatD480RIyedjWNjac4RIqb6tgP2PttbB3t_RB672K78-GaXNS4Cv7mt07J18vz52KZFu-vb4t5kTZM8pgy9NblplIq014Jx_V4s2FOQc6dqitr0dYZVHIcOyY1gLbIwXGuHArMxZTcn_Y2uCr7oV3jsC87bMvlvCiPHgimdKbljo3s3Yntt3aM6B__e1wcAI6tWpw</recordid><startdate>202012</startdate><enddate>202012</enddate><creator>Fernández-Eulate, Gorka</creator><creator>Leturcq, France</creator><creator>Laforêt, Pascal</creator><creator>Richard, Isabelle</creator><creator>Stojkovic, Tanya</creator><general>EDP Sciences</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0003-1112-7464</orcidid><orcidid>https://orcid.org/0000-0002-6505-446X</orcidid></search><sort><creationdate>202012</creationdate><title>Sarcoglycanopathies: state of the art and therapeutic perspectives</title><author>Fernández-Eulate, Gorka ; Leturcq, France ; Laforêt, Pascal ; Richard, Isabelle ; Stojkovic, Tanya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h142t-1aebc97d5586e53c2602071c5092c5fdbbabf80d486ec146006ba20c225ca3a93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng ; fre</language><creationdate>2020</creationdate><topic>Biochemistry, Molecular Biology</topic><topic>Biotechnology</topic><topic>Disease Progression</topic><topic>Genetics</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Molecular biology</topic><topic>Muscular Dystrophies, Limb-Girdle - classification</topic><topic>Muscular Dystrophies, Limb-Girdle - diagnosis</topic><topic>Muscular Dystrophies, Limb-Girdle - genetics</topic><topic>Muscular Dystrophies, Limb-Girdle - therapy</topic><topic>Mutation</topic><topic>Neurology - methods</topic><topic>Neurology - trends</topic><topic>Sarcoglycanopathies - diagnosis</topic><topic>Sarcoglycanopathies - epidemiology</topic><topic>Sarcoglycanopathies - genetics</topic><topic>Sarcoglycanopathies - therapy</topic><topic>Therapies, Investigational - methods</topic><topic>Therapies, Investigational - trends</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fernández-Eulate, Gorka</creatorcontrib><creatorcontrib>Leturcq, France</creatorcontrib><creatorcontrib>Laforêt, Pascal</creatorcontrib><creatorcontrib>Richard, Isabelle</creatorcontrib><creatorcontrib>Stojkovic, Tanya</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>M.S. Médecine sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fernández-Eulate, Gorka</au><au>Leturcq, France</au><au>Laforêt, Pascal</au><au>Richard, Isabelle</au><au>Stojkovic, Tanya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sarcoglycanopathies: state of the art and therapeutic perspectives</atitle><jtitle>M.S. Médecine sciences</jtitle><addtitle>Med Sci (Paris)</addtitle><date>2020-12</date><risdate>2020</risdate><volume>36 Hors série n° 2</volume><spage>22</spage><epage>27</epage><pages>22-27</pages><issn>0767-0974</issn><eissn>1958-5381</eissn><abstract>Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked increase of serum CK levels. The first symptoms appear during the first decade, the loss of ambulation occurring often during the second decade. Lesions observed on the muscle biopsy are dystrophic. This is associated with a decrease or an absence of immunostaining of the sarcoglycan corresponding to the mutated gene and, to a lesser degree, of the other three sarcoglycans. Many mutations have been reported in the four incriminated genes and some of them are prevalent in certain populations. 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subjects | Biochemistry, Molecular Biology Biotechnology Disease Progression Genetics Human genetics Humans Life Sciences Molecular biology Muscular Dystrophies, Limb-Girdle - classification Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - therapy Mutation Neurology - methods Neurology - trends Sarcoglycanopathies - diagnosis Sarcoglycanopathies - epidemiology Sarcoglycanopathies - genetics Sarcoglycanopathies - therapy Therapies, Investigational - methods Therapies, Investigational - trends |
title | Sarcoglycanopathies: state of the art and therapeutic perspectives |
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