AN INFANT WITH CONGENITAL MYOTONIC DYSTROPHY PHENOTYPE

被引:0
|
作者
Jeffries, K. [1 ]
Philips, J. [1 ]
机构
[1] Univ Alabama Birmingham, Birmingham, AL USA
关键词
D O I
10.1136/jim-2017-000697.21
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
21
引用
收藏
页码:361 / 362
页数:2
相关论文
共 50 条
  • [31] Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy
    Furling, D
    Lam, LT
    Agbulut, O
    Butler-Browne, GS
    Morris, GE
    AMERICAN JOURNAL OF PATHOLOGY, 2003, 162 (03): : 1001 - 1009
  • [32] Sibship stability of genotype and phenotype in myotonic dystrophy
    Brisson, D
    Tremblay, M
    Prévost, C
    Laberge, C
    Puymirat, J
    Mathieu, J
    CLINICAL GENETICS, 2002, 62 (03) : 220 - 225
  • [33] Genotype-phenotype correlation in myotonic dystrophy
    Gharehbaghi-Schnell, EB
    Finsterer, J
    Korschineck, I
    Mamoli, B
    Binder, BR
    CLINICAL GENETICS, 1998, 53 (01) : 20 - 26
  • [34] Shake hands; Diagnosing a floppy infant - Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis
    Stuart, AAV
    Huisman, M
    van Straaten, HLM
    Bakker, JC
    Arabin, B
    JOURNAL OF PERINATAL MEDICINE, 2000, 28 (06) : 497 - 501
  • [35] Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents
    Horan, M
    Stutchfield, PR
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2001, 43 (05): : 346 - 349
  • [36] Molecular genetic study in congenital myotonic dystrophy
    Martin, P
    Sierra, J
    Losada, A
    Rufo, M
    Lucas, M
    REVISTA DE NEUROLOGIA, 1997, 25 (142) : 833 - 836
  • [37] ANESTHESIA FOR A CHILD WITH CONGENITAL MYOTONIC-DYSTROPHY
    ANDERSON, BJ
    BROWN, TCK
    ANAESTHESIA AND INTENSIVE CARE, 1989, 17 (03) : 351 - 354
  • [38] Congenital myotonic dystrophy pathology and somatic mosaicism
    Joseph, JT
    Upton, M
    Richards, CS
    Anthony, DC
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1996, 55 (05): : 252 - 252
  • [39] Perceptual characteristics of speech in congenital myotonic dystrophy
    Berggren, K.
    Foye, M.
    Kuo, C.
    Johnson, N.
    NEUROMUSCULAR DISORDERS, 2023, 33 : S154 - S154
  • [40] Respiratory outcomes in children with congenital myotonic dystrophy
    Omura, Jaclyn
    Chen, Maida
    Haviland, Miriam
    Apkon, Susan
    JOURNAL OF PEDIATRIC REHABILITATION MEDICINE, 2022, 15 (02) : 275 - 279