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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We pre...

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Autores principales: Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925463/
https://www.ncbi.nlm.nih.gov/pubmed/27212206
http://dx.doi.org/10.1016/j.nmd.2016.05.003
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author Astrea, Guja
Pezzini, Ilaria
Picillo, Ester
Pasquariello, Rosa
Moro, Francesca
Ergoli, Manuela
D'Ambrosio, Paola
D'Amico, Adele
Politano, Luisa
Santorelli, Filippo Maria
author_facet Astrea, Guja
Pezzini, Ilaria
Picillo, Ester
Pasquariello, Rosa
Moro, Francesca
Ergoli, Manuela
D'Ambrosio, Paola
D'Amico, Adele
Politano, Luisa
Santorelli, Filippo Maria
author_sort Astrea, Guja
collection PubMed
description The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement. He also presented a cochlear dysplasia and harbored a reported mutation (p.A47Rfs*42) in TMEM5, detected using targeted next-generation sequencing. The relatively milder muscular phenotype and associated structural brain abnormalities distinguish this case from previously reported patients with severe dystroglycanopathies and expand the spectrum of TMEM5-associated disorders.
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spelling pubmed-49254632016-07-13 TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement Astrea, Guja Pezzini, Ilaria Picillo, Ester Pasquariello, Rosa Moro, Francesca Ergoli, Manuela D'Ambrosio, Paola D'Amico, Adele Politano, Luisa Santorelli, Filippo Maria Neuromuscul Disord Case Report The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement. He also presented a cochlear dysplasia and harbored a reported mutation (p.A47Rfs*42) in TMEM5, detected using targeted next-generation sequencing. The relatively milder muscular phenotype and associated structural brain abnormalities distinguish this case from previously reported patients with severe dystroglycanopathies and expand the spectrum of TMEM5-associated disorders. Pergamon Press 2016-07 /pmc/articles/PMC4925463/ /pubmed/27212206 http://dx.doi.org/10.1016/j.nmd.2016.05.003 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Astrea, Guja
Pezzini, Ilaria
Picillo, Ester
Pasquariello, Rosa
Moro, Francesca
Ergoli, Manuela
D'Ambrosio, Paola
D'Amico, Adele
Politano, Luisa
Santorelli, Filippo Maria
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title_full TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title_fullStr TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title_full_unstemmed TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title_short TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
title_sort tmem5-associated dystroglycanopathy presenting with cmd and mild limb-girdle muscle involvement
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925463/
https://www.ncbi.nlm.nih.gov/pubmed/27212206
http://dx.doi.org/10.1016/j.nmd.2016.05.003
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