Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the develop...

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Published inBioMed research international Vol. 2010; no. 2010; pp. 1 - 13
Main Authors Piróg, Katarzyna A., Briggs, Michael D.
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Puplishing Corporation 01.01.2010
Hindawi Publishing Corporation
Hindawi Limited
Subjects
Cartilage
Colleges & universities
Disease
Kinases
Life sciences
Musculoskeletal system
Mutation
Review
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Abstract Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.
AbstractList Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.
Author Piróg, Katarzyna A.
Briggs, Michael D.
AuthorAffiliation Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
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ContentType Journal Article
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Copyright Copyright © 2010
Copyright © 2010 Katarzyna A. Piróg et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright © 2010 K. A. Piróg and M. D. Briggs. 2010
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– notice: Copyright © 2010 Katarzyna A. Piróg et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
– notice: Copyright © 2010 K. A. Piróg and M. D. Briggs. 2010
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  doi: 10.1002/(SICI)1096-8628(19960517)63:2<406::AID-AJMG16>3.0.CO;2-O
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  doi: 10.1111/j.1600-0838.2005.00458.x
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Snippet Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different...
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SubjectTerms Cartilage
Colleges & universities
Disease
Kinases
Life sciences
Musculoskeletal system
Mutation
Review
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Title Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review
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https://dx.doi.org/10.1155/2010/686457
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Volume 2010
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