Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes-Reference-Cited by-同舟云学术

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

Published:2021-07-01 Issue:7 Volume:78 Page:853
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Kumutpongpanich Theerawat¹²,Ogasawara Masashi¹²,Ozaki Ayami¹²,Ishiura Hiroyuki³,Tsuji Shoji³,Minami Narihiro¹²,Hayashi Shinichiro¹²,Noguchi Satoru¹²,Iida Aritoshi²,Nishino Ichizo¹²,Mori-Yoshimura Madoka⁴,Oya Yasushi⁴,Ono Kenjiro⁵,Shimizu Toshio⁶,Kawata Akihiro⁶,Shimohama Shun⁷,Toyooka Keiko⁸,Endo Kaoru⁹,Toru Shuta¹⁰,Sasaki Oga¹¹,Isahaya Kenji¹¹,Takahashi Masanori P.¹²,Iwasa Kazuo¹³,Kira Jun-Ichi¹⁴,Yamamoto Tatsuya¹⁵,Kawamoto Michi¹⁶,Hamano Tadanori¹⁷,Sugie Kazuma¹⁸,Eura Nobuyuki¹⁸,Shiota Tomo¹⁸,Koide Mizuho¹⁹,Sekiya Kanako²⁰,Kishi Hideaki²¹,Hideyama Takuto²²,Kawai Shigeru²³,Yanagimoto Satoshi²³,Sato Hiroyasu²⁴,Arahata Hajime²⁵,Murayama Shigeo²⁶,Saito Kayoko²⁷,Hara Hideo²⁸,Kanda Takashi²⁹,Yaguchi Hiroshi³⁰,Imai Noboru³¹,Kawagashira Yuichi³²,Sanada Mitsuru³³,Obara Kazuki³⁴,Kaido Misako³⁵,Furuta Minori³⁶,Kurashige Takashi³⁷,Hara Wataru³⁸,Kuzume Daisuke³⁹,Yamamoto Mamoru⁴⁰,Tsugawa Jun⁴¹,Kishida Hitaru⁴²,Ishizuka Naoki⁴³,Morimoto Kohei⁴⁴,Tsuji Yukio⁴⁴,Tsuneyama Atsuko⁴⁵,Matsuno Atsuhiro⁴⁶,Sasaki Ryo⁴⁷,Tamakoshi Daigo⁴⁸,Abe Erika⁴⁹,Yamada Shinichiro⁵⁰,Uzawa Akiyuki¹⁵,

Affiliation:

1. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan

2. Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

3. Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan

4. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan

5. Division of Neurology, Department of Internal Medicine, Showa University School of Medicine, Shinagawa, Tokyo, Japan

6. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

7. Department of Neurology, Sapporo Medical University, Sapporo, Japan

8. Department of Neurology, Osaka Toneyama Medical Center, Osaka, Japan

9. Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan

10. Department of Neurology, Nitobe Memorial Nakano General Hospital, Tokyo, Japan

11. Division of Neurology, Department of Internal Medicine, St Marianna University School of Medicine, Kanagawa, Japan

12. Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan

13. Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan

14. Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

15. Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan

16. Department of Neurology, Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan

17. Second Department of Internal Medicine, Division of Neurology, Department of Aging and Dementia, Faculty of Medical Sciences, University of Fukui, Fukui, Japan

18. Department of Neurology, Nara Medical University, Nara, Japan

19. Department of Neurology, Chiba-East National Hospital, Chiba, Japan

20. Department of Neurology, Niigata City General Hospital, Niigata, Japan

21. Department of Neurology, Asahikawa Medical Center, Asahikawa, Japan

22. Department of Neurology, Tokyo Medical University, Tokyo, Japan

23. Department of Neurology, Kindai University Faculty of Medicine, Osaka, Japan

24. Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan

25. Department of Neurology, National Hospital Organization Omuta National Hospital, Omuta, Japan

26. Department of Neurology and Neuropathology (the Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital, Institute of Gerontology, Tokyo, Japan

27. Institute of Medical Genetics, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan

28. Division of Neurology, Department of Internal Medicine, Saga University Faculty of Medicine, Saga, Japan

29. Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan

30. Department of Neurology, The Jikei University Kashiwa Hospital, Kashiwa, Japan

31. Department of Neurology, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan

32. Department of Neurology, Tsushima City Hospital, Aichi, Japan

33. Department of Neurology, Kanazawa Medical University Hospital, Ishikawa, Japan

34. Department of Neurology, Anjo Kosei Hospital, Aichi, Japan

35. Department of Neurology, Sakai City Medical Center, Osaka, Japan

36. Department of Neurology, Gunma University, Maebashi, Japan

37. Department of Neurology, National Hospital Organization Kure Medical Center, Chugoku Cancer Center, Kure, Japan

38. Department of Neurology, Saitama Medical Center, Saitama, Japan

39. Department of Neurology, Chikamori Hospital, Kochi, Japan

40. Department of Neurology, Toyama University, Toyama, Japan

41. Department of Neurology, Fukuoka University, Fukuoka, Japan

42. Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan

43. Division of Neurology and Gerontology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Iwate, Japan

44. Department of Neurology, Kobe University, Kobe, Japan

45. Department of Neurology, Narita Red Cross Hospital, Chiba, Japan

46. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan

47. Department of Neurology, Okayama University, Okayama, Japan

48. Department of Neurology, Chukyo Hospital, Nagoya, Japan

49. Department of Neurology, National Hospital Organization Akita Hospital, Akita, Japan

50. Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

Link

https://jamanetwork.com/journals/jamaneurology/articlepdf/2780424/jamaneurology_kumutpongpanich_2021_oi_210026_1624467416.80286.pdf

Reference40 articles.

1. Oculopharyngodistal myopathy.;Satoyoshi;Arch Neurol,1977

2. Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.;Durmus;Neurology,2011

3. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy.;Minami;Neuromuscul Disord,2001

4. The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.;Lu;Neuropathology,2008

5. Clinical and muscle imaging findings in 14 mainland Chinese patients with oculopharyngodistal myopathy.;Zhao;PLoS One,2015

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry;Nature Communications;2024-07-27

2. Clinical and pathological characteristics of OPDM4 patients in advanced disease;Muscle & Nerve;2024-07-23

3. Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy;Journal of Neurology, Neurosurgery & Psychiatry;2024-07-16

4. Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases;Molecular Neurobiology;2024-05-23

5. Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2024-05-10