Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

doi:10.1007/s00415-011-6262-z

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Article

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Journal of neurology - 1 May 2012

Guergueltcheva Velina, Müller Juliane S, Dusl Marina, Senderek Jan, Oldfors Anders, Lindbergh Christopher, Maxwell Susan, Colomer Jaume, Mallebrera Cecilia Jimenez, Nascimento Andres, Vilchez Juan J, Muelas Nuria, Kirschner Janbernd, Nafissi Shahriar, Kariminejad Ariana, Nilipour Yalda, Bozorgmehr Bita, Najmabadi Hossein, Rodolico Carmelo, Sieb Jörn P, Schlotter Beate, Schoser Benedikt, Herrmann Ralf, Voit Thomas, Steinlein Ortrud K, Najafi Abdolhamid, Urtizberea Andoni, Soler Doriette M, Muntoni Francesco, Hanna Michael G, Chaouch Amina, Straub Volker, Bushby Kate, Palace Jacqueline, Beeson David, Abicht Angela, Lochmüller Hanns

Abstract excerpt

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical...

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Identifiers

PMID: 21975507
DOI: 10.1007/s00415-011-6262-z

Genes

GFPT1
DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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