Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Show other versions (1)

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mu...

全面介紹

書目詳細資料
Main Authors: Guergueltcheva, V, Müller, J, Dusl, M, Senderek, J, Oldfors, A, Lindbergh, C, Maxwell, S, Colomer, J, Mallebrera, C, Nascimento, A, Vilchez, J, Muelas, N, Kirschner, J, Nafissi, S, Kariminejad, A, Nilipour, Y, Bozorgmehr, B, Najmabadi, H, Rodolico, C, Sieb, J, Schlotter, B, Schoser, B, Herrmann, R, Voit, T, Steinlein, O
格式: Journal article
語言:English
出版: 2011

相似書籍