Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Jean-Baptiste Noury,Johann Böhm,Georges Arielle Peche,Lucie Guyant-Marechal,Anne-Laure Bedat-Millet, Léa Chiche,Robert-Yves Carlier,Edoardo Malfatti,Norma B Romero,Tanya Stojkovic

Neuromuscular Disorders（2017）

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摘要

•Our patient had tubular aggregate myopathy and features of Stormorken syndrome.•Whole-body muscle magnetic resonance imaging revealed asplenia.•STIM1 analysis disclosed the novel c.252T>A, p.D84E missense mutation.•First STIM1 mutation in the Ca2+-binding EF domain with asplenia.

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关键词

STIM1,Stormorken syndrome,Tubular aggregate myopathy,Asplenia

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