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

Guja Astrea, Ilaria Pezzini, Ester Picillo, Rosa Pasquariello, Francesca Moro, Manuela Ergoli, Paola D'Ambrosio, Adele D'Amico, Luisa Politano, Filippo Maria Santorelli

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)459-61
Number of pages3
JournalNeuromuscular Disorders
Volume26
Issue number7
DOIs
Publication statusPublished - Jul 2016

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Extremities
Dystroglycans
Muscles
Mutation
Cochlea
Brain
Glycosylation
Neuroimaging
Intellectual Disability
Neurodegenerative Diseases
Skeletal Muscle
Phenotype
Polymicrogyria

Keywords

  • Journal Article

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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.

In: Neuromuscular Disorders, Vol. 26, No. 7, 07.2016, p. 459-61.

Research output: Contribution to journalArticle

Astrea, G, Pezzini, I, Picillo, E, Pasquariello, R, Moro, F, Ergoli, M, D'Ambrosio, P, D'Amico, A, Politano, L & Santorelli, FM 2016, 'TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement', Neuromuscular Disorders, vol. 26, no. 7, pp. 459-61. https://doi.org/10.1016/j.nmd.2016.05.003
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. In: Neuromuscular Disorders. 2016 ; Vol. 26, No. 7. pp. 459-61.
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AU - Astrea, Guja

AU - Pezzini, Ilaria

AU - Picillo, Ester

AU - Pasquariello, Rosa

AU - Moro, Francesca

AU - Ergoli, Manuela

AU - D'Ambrosio, Paola

AU - D'Amico, Adele

AU - Politano, Luisa

AU - Santorelli, Filippo Maria

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Y1 - 2016/7

N2 - 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.

AB - 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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