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Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Among authors: lochmuller h. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Among authors: lochmuller h. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: lochmuller h. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: lochmuller h. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.
von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: lochmuller h. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727
693 results