| PubMed |
Abstract |
RScore(About this table) |
| 15145336 |
Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, Newsom-Davis J, Palace J, Beeson D: Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord. 2004 Jun;14(6):356-64.
We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. |
6(0,0,0,6) |
Details |
| 15036330 |
Banwell BL, Ohno K, Sieb JP, Engel AG: Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord. 2004 Mar;14(3):202-7.
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4(0,0,0,4) |
Details |
| 19172815 |
Ishigaki K, Murakami T, Ito Y, Yanagisawa A, Kodaira K, Shishikura K, Suzuki H, Hirayama Y, Osawa M: [Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]. No To Hattatsu. 2009 Jan;41(1):37-42.
Genetic analyses for AchR, Rapsyn, Musk and AChE were negative. |
1(0,0,0,1) |
Details |