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Congenital Myotonic Dystrophy
Known as:
Dystrophies, Congenital Myotonic
, Myotonic Dystrophy, Congenital
, Dystrophy, Congenital Myotonic
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Myotonic dystrophy that is present at birth.
National Institutes of Health
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Related topics
Related topics
4 relations
Connective and Soft Tissue
Myotonic Dystrophy
Skeletal bone
soft tissue
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
X-linked myotubular myopathy and chylothorax
K. Smets
Neuromuscular Disorders
2008
Corpus ID: 18601479
Review
2003
Review
2003
The Hypotonic Infant: Case Study of Central Core Disease
Val Castrodale
Neonatal Network
2003
Corpus ID: 40770828
HYPOTONIA IN THE INFANT IS usually associated with diminished active movement in addition to unusual posture, decreased…
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2000
2000
Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy
L. Suárez
,
A. Bélanger-Quintana
,
+5 authors
J. Aparicio
European Journal of Pediatrics
2000
Corpus ID: 11532228
Abstract In children, anal abnormalities due to various causes may be confused with sexual abuse. We present the case of a child…
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1999
1999
Estudio epidemiológico de la distrofia miotónica congénita de Steinert: características dismorfológicas
J. G. Dios
,
M. L. Martínez-Frías
,
+6 authors
M. M. Ramos
1999
Corpus ID: 54117780
Durante el periodo neonatal es importante reconocer los defectos congenitos asociados a las enfermedades neuromusculares y, en…
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1996
1996
Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy.
S. Wenger
,
C. Giangreco
,
J. Tarleton
,
H. Wessel
American journal of medical genetics
1996
Corpus ID: 41464098
Myotonic dystrophy (DM) is a trinucleotide repeat syndrome which can contain 50 to over 2,000 CTG repeats in affected individuals…
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1995
1995
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
A. D. Munain
,
A. Cobo
,
+5 authors
M. Baiget
Journal of Medical Genetics
1995
Corpus ID: 41786770
To analyse the influence of the sex of the transmitting grandparents on the occurrence of the congenital form of myotonic…
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1994
1994
Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.
J. Barceló
,
M. Pluscauskas
,
A. MacKenzie
,
C. Tsilfidis
,
M. Narang
,
R. Korneluk
American Journal of Human Genetics
1994
Corpus ID: 35355531
illness-evidence for the assumed mode of inheritance is lacking. Br J Psychiatry 160:7-11 N6then MM, Cichon S, Erdmann J, Korner…
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1993
1993
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy
C. Lavedan
,
H. Hofmann-Radvanyi
,
J. Rabès
,
J. Roume
,
C. Junien
The Lancet
1993
Corpus ID: 41803348
1987
1987
Congenital Myotonic Dystrophy
J. Millichap
1987
Corpus ID: 79429777
Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical…
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1977
1977
Smooth Muscle Involvement in Congenital Myotonic Dystrophy
H. Lenard
,
Goebel Hh
,
W. Weigel
Neuropadiatrie
1977
Corpus ID: 23042955
Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in…
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