Diagnose eines kongenitalen Myasthenie-Syndroms durch eine Rapsyn-Defizienz im Erwachsenenalter

Klinische Neurophysiologie 2018; 49(02): 113-115
DOI: 10.1055/a-0591-0670

Der besondere Fall

Diagnosis of a Congenital Myasthenic Syndrome Due to Rapsyn Deficiency in an Adult

Jörn Peter Sieb

¹HELIOS Hanseklinikum Stralsund

Literatur
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2 Burke G, Cossins J, Maxwell S. et al. Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes. Neurology 2003; 61: 826-828
3 Kraner S, Sieb JP, Laufenberg I. et al. Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Arch Neurol 2003; 60: 761-763
4 Müller JS, Mildner G, Müller-Felber W. et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003; 60: 1805-1810
5 Banwell BL, Ohno K, Sieb JP. et al. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord 2004; 14: 202-207
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