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 -