Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

BACKGROUND: Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. SCCMS mutations within the AChR subunit...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Croxen, R, Hatton, C, Shelley, C, Brydson, M, Chauplannaz, G, Oosterhuis, H, Vincent, A, Newsom-Davis, J, Colquhoun, D, Beeson, D
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: 2002