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

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• 作者：Jean-Baptiste Noury^a ; ^{jean-baptiste.noury@chu-brest.fr} ; Johann Bö ; hm^b ; Georges Arielle Peche^b ; Lucie Guyant-Marechal^c ; Anne-Laure Bedat-Millet^c ; Lé ; a Chiche^d ; Robert-Yves Carlier^d ; Edoardo Malfatti^e ; ^f ; Norma B. Romero^e ; ^f ; Tanya Stojkovic^f
• 关键词：STIM1 ; Stormorken syndrome ; Tubular aggregate myopathy ; Asplenia
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：27
• 期：1
• 页码：78-82
• 全文大小：1626 K
• 卷排序：27

文摘

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.