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23. 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 Neurology; 1999 Oct; 53(7):1564-9. PubMed ID: 10534268 [TBL] [Abstract][Full Text] [Related]
24. Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. Engel AG; Uchitel OD; Walls TJ; Nagel A; Harper CM; Bodensteiner J Ann Neurol; 1993 Jul; 34(1):38-47. PubMed ID: 7685992 [TBL] [Abstract][Full Text] [Related]
25. Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor. Engel AG; Nagel A; Walls TJ; Harper CM; Waisburg HA Muscle Nerve; 1993 Dec; 16(12):1284-92. PubMed ID: 8232383 [TBL] [Abstract][Full Text] [Related]
26. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Engel AG; Ohno K; Milone M; Wang HL; Nakano S; Bouzat C; Pruitt JN; Hutchinson DO; Brengman JM; Bren N; Sieb JP; Sine SM Hum Mol Genet; 1996 Sep; 5(9):1217-27. PubMed ID: 8872460 [TBL] [Abstract][Full Text] [Related]
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28. IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Fidzianska A; Ryniewicz B; Shen XM; Engel AG Neuromuscul Disord; 2005 Nov; 15(11):753-9. PubMed ID: 16198106 [TBL] [Abstract][Full Text] [Related]