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

Highlights • We studied a CMD patient with structural brain abnormalities. • Next-generation sequencing identified a reported variant in TMEM5. • We expanded the spectrum of TMEM5 -associated disorders.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2016-07, Vol.26 (7), p.459-461
Main Authors: Astrea, Guja, MD, PhD, Pezzini, Ilaria, PhD, Picillo, Ester, MD, Pasquariello, Rosa, MD, Moro, Francesca, PhD, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, MD, PhD, Politano, Luisa, MD, Santorelli, Filippo Maria, MD
Format: Article
Language:English
Subjects:
Adolescent
Brain - diagnostic imaging
Case Report
Cochlear dysplasia
Congenital muscular dystrophy
Dystroglycans - metabolism
Humans
Limb-girdle muscle weakness
Male
Membrane Proteins - genetics
Muscular Dystrophies - diagnostic imaging
Muscular Dystrophies - genetics
Muscular Dystrophies - physiopathology
Neurology
Pentosyltransferases
Phenotype
Polymicrogyria
TMEM5
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Description
Summary:Highlights • We studied a CMD patient with structural brain abnormalities. • Next-generation sequencing identified a reported variant in TMEM5. • We expanded the spectrum of TMEM5 -associated disorders.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2016.05.003