Nemaline myopathy type 6: clinical and myopathological features

Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene scree...

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Autores: Olivé i Plana, Montserrat, Goldfarb, Lev G., Lee, Hee Suk, Odgerel, Zagaa, Blokhin, Andre, González Mera, Laura, Moreno, Dolores, Laing, Nigel G., Sambuughin, Nyamkhishig
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2010
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/126787
Acceso en línea:https://hdl.handle.net/2445/126787
Access Level:acceso abierto
Palabra clave:Malalties musculars
Cromosoma 15 humà
Muscular Diseases
Human chromosome 15
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spelling Nemaline myopathy type 6: clinical and myopathological featuresOlivé i Plana, MontserratGoldfarb, Lev G.Lee, Hee SukOdgerel, ZagaaBlokhin, AndreGonzález Mera, LauraMoreno, DoloresLaing, Nigel G.Sambuughin, NyamkhishigMalalties muscularsCromosoma 15 humàMuscular DiseasesHuman chromosome 15Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies showed numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. The disease in this Spanish family was classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene.Wiley2010info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfhttps://hdl.handle.net/2445/126787Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésVersió postprint del document publicat a: https://doi.org/10.1002/mus.21788Muscle & Nerve, 2010, vol. 42, num. 6, p. 901-907https://doi.org/10.1002/mus.21788(c) Wiley, 2011info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1267872026-05-27T06:46:51Z
dc.title.none.fl_str_mv Nemaline myopathy type 6: clinical and myopathological features
title Nemaline myopathy type 6: clinical and myopathological features
spellingShingle Nemaline myopathy type 6: clinical and myopathological features
Olivé i Plana, Montserrat
Malalties musculars
Cromosoma 15 humà
Muscular Diseases
Human chromosome 15
title_short Nemaline myopathy type 6: clinical and myopathological features
title_full Nemaline myopathy type 6: clinical and myopathological features
title_fullStr Nemaline myopathy type 6: clinical and myopathological features
title_full_unstemmed Nemaline myopathy type 6: clinical and myopathological features
title_sort Nemaline myopathy type 6: clinical and myopathological features
dc.creator.none.fl_str_mv Olivé i Plana, Montserrat
Goldfarb, Lev G.
Lee, Hee Suk
Odgerel, Zagaa
Blokhin, Andre
González Mera, Laura
Moreno, Dolores
Laing, Nigel G.
Sambuughin, Nyamkhishig
author Olivé i Plana, Montserrat
author_facet Olivé i Plana, Montserrat
Goldfarb, Lev G.
Lee, Hee Suk
Odgerel, Zagaa
Blokhin, Andre
González Mera, Laura
Moreno, Dolores
Laing, Nigel G.
Sambuughin, Nyamkhishig
author_role author
author2 Goldfarb, Lev G.
Lee, Hee Suk
Odgerel, Zagaa
Blokhin, Andre
González Mera, Laura
Moreno, Dolores
Laing, Nigel G.
Sambuughin, Nyamkhishig
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malalties musculars
Cromosoma 15 humà
Muscular Diseases
Human chromosome 15
topic Malalties musculars
Cromosoma 15 humà
Muscular Diseases
Human chromosome 15
description Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies showed numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. The disease in this Spanish family was classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene.
publishDate 2010
dc.date.none.fl_str_mv 2010
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/126787
url https://hdl.handle.net/2445/126787
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1002/mus.21788
Muscle & Nerve, 2010, vol. 42, num. 6, p. 901-907
https://doi.org/10.1002/mus.21788
dc.rights.none.fl_str_mv (c) Wiley, 2011
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Wiley, 2011
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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