Congenital myasthenic syndrome caused by novel COL13A1 mutations

Author:

Dusl MarinaORCID,Moreno Teresa,Munell Francina,Macaya Alfons,Gratacòs Margarida,Abicht Angela,Strom Tim M.,Lochmüller Hanns,Senderek Jan

Funder

Bayerische Gleichstellungsförderung

Fritz-Thyssen-Stiftung

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference10 articles.

1. Abicht A, Muller JS, Lochmuller H (1993) Congenital myasthenic syndromes. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews®. University of Washington, Seattle, WA

2. Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J (2015) Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 47:803–808

3. Haronen H, Zainul Z, Tu H, Naumenko N, Sormunen R, Miinalainen I, Shakirzyanova A, Oikarainen T, Abdullin A, Martin P, Santoleri S, Koistinaho J, Silman I, Giniatullin R, Fox MA, Heikkinen A, Pihlajaniemi T (2017) Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse. Hum Mol Genet 26:2076–2090

4. Kvist AP, Latvanlehto A, Sund M, Eklund L, Vaisanen T, Hagg P, Sormunen R, Komulainen J, Fassler R, Pihlajaniemi T (2001) Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy. Am J Pathol 159:1581–1592

5. Latvanlehto A, Fox MA, Sormunen R, Tu H, Oikarainen T, Koski A, Naumenko N, Shakirzyanova A, Kallio M, Ilves M, Giniatullin R, Sanes JR, Pihlajaniemi T (2010) Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction. J Neurosci 30:12230–12241

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