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Article

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

Neuromuscular disorders : NMD - 1 Jul 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 27212206
DOI: 10.1016/j.nmd.2016.05.003
PMCID: PMC4925463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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