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

9 Citations (Scopus)

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
JournalNeuromuscular Disorders
DOIs
Publication statusAccepted/In press - Oct 10 2015

Fingerprint

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

Keywords

  • Cochlear dysplasia
  • Congenital muscular dystrophy
  • Limb-girdle muscle weakness
  • Polymicrogyria
  • TMEM5

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

Cite this

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, 10.10.2015.

Research output: Contribution to journalArticle

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. 2015.
@article{4c00da64b4bf43fc8253abe4a10bce38,
title = "TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement",
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.",
keywords = "Cochlear dysplasia, Congenital muscular dystrophy, Limb-girdle muscle weakness, Polymicrogyria, TMEM5",
author = "Guja Astrea and Ilaria Pezzini and Ester Picillo and Rosa Pasquariello and Francesca Moro and Manuela Ergoli and Paola D'Ambrosio and Adele D'Amico and Luisa Politano and Santorelli, {Filippo Maria}",
year = "2015",
month = "10",
day = "10",
doi = "10.1016/j.nmd.2016.05.003",
language = "English",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",

}

TY - JOUR

T1 - TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

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

PY - 2015/10/10

Y1 - 2015/10/10

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.

KW - Cochlear dysplasia

KW - Congenital muscular dystrophy

KW - Limb-girdle muscle weakness

KW - Polymicrogyria

KW - TMEM5

UR - http://www.scopus.com/inward/record.url?scp=84975503718&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84975503718&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2016.05.003

DO - 10.1016/j.nmd.2016.05.003

M3 - Article

AN - SCOPUS:84975503718

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

ER -