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Article

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Neuromuscular disorders : NMD - 1 Aug 2018

Zaum Ann-Kathrin, Kolokotronis Konstantinos, Kress Wolfram, Goebel Hans-Hilmar, Rost Simone, Seeger Jürgen

Abstract excerpt

Dystroglycanopathies are a diverse group of neuromuscular disorders caused by aberrant glycosylation of alpha-dystroglycan. TMEM5 is one of many glycosyltransferases recently described to be associated with alpha-dystroglycanopathies. We report the case of a 15-year-old boy suffering from a congenital muscular dystrophy with elevated serum creatine kinase levels and an almost complete absence of...

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Identifiers

PMID: 30017359
DOI: 10.1016/j.nmd.2018.06.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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