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Congenital Myotonic Dystrophy

Known as: Dystrophies, Congenital Myotonic, Myotonic Dystrophy, Congenital, Dystrophy, Congenital Myotonic 
Myotonic dystrophy that is present at birth.
National Institutes of Health

Related topics

Related topics

4 relations
Connective and Soft TissueMyotonic DystrophySkeletal bonesoft tissue

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
X-linked myotubular myopathy and chylothorax
Review
2003
Review
2003
The Hypotonic Infant: Case Study of Central Core Disease
HYPOTONIA IN THE INFANT IS usually associated with diminished active movement in addition to unusual posture, decreased… 
2000
2000
Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy
Abstract In children, anal abnormalities due to various causes may be confused with sexual abuse. We present the case of a child… 
1999
1999
Estudio epidemiológico de la distrofia miotónica congénita de Steinert: características dismorfológicas
Durante el periodo neonatal es importante reconocer los defectos congenitos asociados a las enfermedades neuromusculares y, en… 
1996
1996
Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy.
Myotonic dystrophy (DM) is a trinucleotide repeat syndrome which can contain 50 to over 2,000 CTG repeats in affected individuals… 
1995
1995
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
To analyse the influence of the sex of the transmitting grandparents on the occurrence of the congenital form of myotonic… 
1994
1994
Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.
illness-evidence for the assumed mode of inheritance is lacking. Br J Psychiatry 160:7-11 N6then MM, Cichon S, Erdmann J, Korner… 
1993
1993
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy
1987
1987
Congenital Myotonic Dystrophy
Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical… 
1977
1977
Smooth Muscle Involvement in Congenital Myotonic Dystrophy
Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in… 
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