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名词信息
中 文 名:
先天性营养不良性肌强直
英 文 名:
congenital myotonic dystrophy,neonatal dystrophia myotonica
中文又称:
强直性肌营养不良
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
congenital myotonic dystrophy,neonatal dystrophia myotonica
相关文献:
Congenital Myotonic Dystrophy.
Jain A, Al Khalili Y.
2023 Feb 2. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:32809353
Congenital dystrophia myotonica.
Dyken PR, Harper PS.
Neurology. 1973 May;23(5):465-73. doi: 10.1212/wnl.23.5.465.
PMID:4735462
Atypical Forms of Diabetes.
Feingold KR.
2025 Mar 10. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905351
Congenital myotonic dystrophy.
Upadhyay K, Thomson A, Luckas MJ.
Fetal Diagn Ther. 2005 Nov-Dec;20(6):512-4. doi: 10.1159/000088041.
PMID:16260886
Congenital and infantile myotonic dystrophy.
Echenne B, Bassez G.
Handb Clin Neurol. 2013;113:1387-93. doi: 10.1016/B978-0-444-59565-2.00009-5.
PMID:23622362
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.
Ho G, Cardamone M, Farrar M.
World J Clin Pediatr. 2015 Nov 8;4(4):66-80. doi: 10.5409/wjcp.v4.i4.66. eCollection 2015 Nov 8.
PMID:26566479
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.
Zapata-Aldana E, Ceballos-Sáenz D, Hicks R, Campbell C.
J Neuromuscul Dis. 2018;5(3):331-340. doi: 10.3233/JND-170277.
PMID:30010141
Myotonic Muscular Dystrophies.
Johnson NE.
Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695. doi: 10.1212/CON.0000000000000793.
PMID:31794466
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK.
Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7.
PMID:32031333
Respiratory outcomes in children with congenital myotonic dystrophy.
Omura J, Chen M, Haviland M, Apkon S.
J Pediatr Rehabil Med. 2022;15(2):275-279. doi: 10.3233/PRM-200726.
PMID:34806628
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