Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent Muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild we...

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Autores: Olivé i Plana, Montserrat, Shatunov, Alexey, González Mera, Laura, Carmona, Olga, Moreno, Dolores, González Quereda, Lidia, Martínez Matos, Juan Antonio, Goldfarb, Lev G., Ferrer, Isidro (Ferrer Abizanda)
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2008
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/126631
Acceso en línea:https://hdl.handle.net/2445/126631
Access Level:acceso abierto
Palabra clave:Hipertròfia
Immunofluorescència
Hypertrophy
Immunofluorescence
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spelling Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patientOlivé i Plana, MontserratShatunov, AlexeyGonzález Mera, LauraCarmona, OlgaMoreno, DoloresGonzález Quereda, LidiaMartínez Matos, Juan AntonioGoldfarb, Lev G.Ferrer, Isidro (Ferrer Abizanda)HipertròfiaImmunofluorescènciaHypertrophyImmunofluorescenceA 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent Muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, Muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of legs, as well as mild scapular winging and hyperlordosis. A muscle biopsy taken from the biceps brachii showed mild dystrophic changes, absent vacuoles, and abundant lobulated fibers. Immunofluorescence and Western blot assays demonstrated complete telethonin deficiency. Molecular analysis revealed a homozygous Trp25X mutation in the telethonin (TCAP) gene resulting in termination of transcription at an early point. Four families from Brazil with telethonin deficiency have previously been reported and classified as LMD2G, but the actual frequency of this disease is unknown. With this current identification of a case outside the Brazilian Population, telethonin mutation-associated LGMD should be considered worldwide. (C) 2008 Elsevier B.V. All rights reserved.Elsevier2018201820082018info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion11 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/126631Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: https://doi.org/10.1016/j.nmd.2008.07.009Neuromuscular Disorders, 2008, vol. 18, num. 12, p. 929-933https://doi.org/10.1016/j.nmd.2008.07.009(c) Elsevier, 2008info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1266312026-05-29T05:05:01Z
dc.title.none.fl_str_mv Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
title Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
spellingShingle Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
Olivé i Plana, Montserrat
Hipertròfia
Immunofluorescència
Hypertrophy
Immunofluorescence
title_short Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
title_full Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
title_fullStr Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
title_full_unstemmed Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
title_sort Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
dc.creator.none.fl_str_mv Olivé i Plana, Montserrat
Shatunov, Alexey
González Mera, Laura
Carmona, Olga
Moreno, Dolores
González Quereda, Lidia
Martínez Matos, Juan Antonio
Goldfarb, Lev G.
Ferrer, Isidro (Ferrer Abizanda)
author Olivé i Plana, Montserrat
author_facet Olivé i Plana, Montserrat
Shatunov, Alexey
González Mera, Laura
Carmona, Olga
Moreno, Dolores
González Quereda, Lidia
Martínez Matos, Juan Antonio
Goldfarb, Lev G.
Ferrer, Isidro (Ferrer Abizanda)
author_role author
author2 Shatunov, Alexey
González Mera, Laura
Carmona, Olga
Moreno, Dolores
González Quereda, Lidia
Martínez Matos, Juan Antonio
Goldfarb, Lev G.
Ferrer, Isidro (Ferrer Abizanda)
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Hipertròfia
Immunofluorescència
Hypertrophy
Immunofluorescence
topic Hipertròfia
Immunofluorescència
Hypertrophy
Immunofluorescence
description A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent Muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, Muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of legs, as well as mild scapular winging and hyperlordosis. A muscle biopsy taken from the biceps brachii showed mild dystrophic changes, absent vacuoles, and abundant lobulated fibers. Immunofluorescence and Western blot assays demonstrated complete telethonin deficiency. Molecular analysis revealed a homozygous Trp25X mutation in the telethonin (TCAP) gene resulting in termination of transcription at an early point. Four families from Brazil with telethonin deficiency have previously been reported and classified as LMD2G, but the actual frequency of this disease is unknown. With this current identification of a case outside the Brazilian Population, telethonin mutation-associated LGMD should be considered worldwide. (C) 2008 Elsevier B.V. All rights reserved.
publishDate 2008
dc.date.none.fl_str_mv 2008
2018
2018
2018
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/2445/126631
url https://hdl.handle.net/2445/126631
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/10.1016/j.nmd.2008.07.009
Neuromuscular Disorders, 2008, vol. 18, num. 12, p. 929-933
https://doi.org/10.1016/j.nmd.2008.07.009
dc.rights.none.fl_str_mv (c) Elsevier, 2008
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Elsevier, 2008
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 11 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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