Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

doi:10.1016/j.ajhg.2011.01.008

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Article

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

American journal of human genetics - 11 Feb 2011

Senderek Jan, Müller Juliane S, Dusl Marina, Strom Tim M, Guergueltcheva Velina, Diepolder Irmgard, Laval Steven H, Maxwell Susan, Cossins Judy, Krause Sabine, Muelas Nuria, Vilchez Juan J, Colomer Jaume, Mallebrera Cecilia Jimenez, Nascimento Andres, Nafissi Shahriar, Kariminejad Ariana, Nilipour Yalda, Bozorgmehr Bita, Najmabadi Hossein, Rodolico Carmelo, Sieb Jörn P, Steinlein Ortrud K, Schlotter Beate, Schoser Benedikt, Kirschner Janbernd, Herrmann Ralf, Voit Thomas, Oldfors Anders, Lindbergh Christopher, Urtizberea Andoni, von der Hagen Maja, Hübner Angela, Palace Jacqueline, Bushby Kate, Straub Volker, Beeson David, Abicht Angela, Lochmüller Hanns

Abstract excerpt

Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromuscular transmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic...

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Identifiers

PMID: 21310273
DOI: 10.1016/j.ajhg.2011.01.008
PMCID: PMC3035713

Genes

GFPT1

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