Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Piekutowska-Abramczuk Dorota; Mierzewska Hanna; Bekiesinska-Figatowska Monika; ciara Elzbieta; Trubicka Joanna; Pronicki Maciej; Rokicki Dariusz; Rydzanicz Malgorzata; Ploski Rafal; Pronicka Ewa

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Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

机译：由两个患有肌张力障碍和雀斑样皮肤变化的兄弟姐妹的ADAR突变引起的双侧纹状体坏死，应与Leigh综合征区分开来

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Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi-Goutieres syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian adults. Recently, they have been also found in patients with nonsyndromic bilateral striatal necrosis accompanied by skin changes of the freckles-like type.

机译：ADAR基因的致病分子变异是罕见疾病的已知病因，常染色体隐性隐性Aicardi-Goutieres综合征6型，伴有颅内钙化和对称性显色性色素沉着症的严重婴儿性脑病，主要在亚洲成年人中表现出来。最近，在非综合征性双侧纹状体坏死伴有雀斑样皮肤改变的患者中也发现了它们。

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来源
《Folia neuropathologica》 |2016年第4期|共5页
作者
Piekutowska-Abramczuk Dorota; Mierzewska Hanna; Bekiesinska-Figatowska Monika; ciara Elzbieta; Trubicka Joanna; Pronicki Maciej; Rokicki Dariusz; Rydzanicz Malgorzata; Ploski Rafal; Pronicka Ewa;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
bilateral striatal necrosis; ADAR gene; whole exome sequencing; LS differentiation;

机译：双侧纹状体坏死;ADAR基因;全外显子测序;LS分化;

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1. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome [J] . Piekutowska-Abramczuk Dorota, Mierzewska Hanna, Bekiesinska-Figatowska Monika, Folia neuropathologica . 2016,第4期

机译：由两个患有肌张力障碍和雀斑样皮肤变化的兄弟姐妹的ADAR突变引起的双侧纹状体坏死，应与Leigh综合征区分开来
2. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome [J] . Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Folia neuropathologica . 2016,第4期

机译：患有肌张力障碍和雀斑样皮肤变化的两个兄弟姐妹中的 ADAR 突变引起的双侧纹状体坏死，应与Leigh综合征区分开
3. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). [J] . Roberta La Piana, Carla Uggetti, Ivana Olivieri, American journal of medical genetics, Part A . 2014,第3期

机译：由于ADAR1（AGS6）突变，两名患有Aicardi-Goutières综合征的受试者的双侧纹状体坏死。
4. Skin Temperatures And Respiratory Rates In Subsequent Siblings Of Infants Who Died Of Sudden Infant Death Syndrome (SIDS) [C] . Hoppenbrouwers, T., Hodgman, . 2001

机译：死于婴儿猝死综合症（SIDS）的婴儿其后兄弟姐妹的皮肤温度和呼吸频率
5. Identification, Validation and Characterization of the Mutation on Chromosome 18p which is Responsible for Causing Myoclonus-Dystonia. [D] . Vanstone, Megan. 2012

机译：18p染色体突变的鉴定，验证和表征，这是引起肌阵挛性肌张力障碍的原因。
6. Bilateral striatal necrosis dystonia and optic atrophy in two siblings. [O] . V Leuzzi, E Bertini, A M De Negri, 1992

机译：双侧兄弟姐妹纹状体坏死肌张力障碍和视神经萎缩。
7. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome [O] . Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, 2016

机译：由肌张力障碍和雀斑样皮肤改变的两个兄弟姐妹的aDaR突变引起的双侧纹状体坏死应与Leigh综合征区别开来

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

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