Is myotonic dystrophy a single-gene disorder?

1996 ◽  
Vol 24 (2) ◽  
pp. 510-513 ◽  
Author(s):  
K. J. Johnson ◽  
C. A. Boucher ◽  
S. K. King ◽  
C. L. Winchester ◽  
M. E. S. Bailey ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Single Gene ◽  
Single Gene Disorder

Does myotonic dystrophy have a developmental basis and is it a single gene disorder?

1996 ◽  
Vol 6 (2) ◽  
pp. S18
Author(s):  
K.J. Johnson ◽  
C.A. Boucher ◽  
S.K. King ◽  
C.L. Winchester ◽  
M.E.S. Bailey ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Single Gene ◽  
Single Gene Disorder

SS disease is not a single gene disorder

Blood ◽  
2002 ◽  
Vol 100 (13) ◽  
pp. 4255-4255
Author(s):  
George J. Dover
Keyword(s):  
Single Gene ◽  
Single Gene Disorder

scholarly journals Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

2020 ◽  
Vol 8 (8) ◽  
Author(s):  
Alice Traversa ◽  
Enrica Marchionni ◽  
Agnese Giovannetti ◽  
Maria L. Genovesi ◽  
Noemi Panzironi ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Single Gene ◽  
Single Gene Disorder

Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

The Lancet ◽  
2000 ◽  
Vol 356 (9236) ◽  
pp. 1170 ◽  
Author(s):  
Hiroshi Saito ◽  
Akihiko Sekizawa ◽  
Taro Morimoto ◽  
Makoto Suzuki ◽  
Takumi Yanaihara
Keyword(s):  
Single Gene ◽  
Maternal Plasma ◽  
Single Gene Disorder ◽  
Dna Diagnosis

Neuromuscular and skeletal manifestations of neurofibromatosis

2011 ◽  
Author(s):  
Jeremy Fairbank
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Single Gene ◽  
Neurofibromatosis Type ◽  
Long Bone ◽  
Single Gene Disorder

♦ Neurofibromatosis type 1♦ Single gene disorder♦ Serious scoliosis♦ Pseudoarthrosis of a long bone♦ Hypertrophy of a part♦ An unusual radiographic lesion of bone.

Tuberous Sclerosis and Autism

2013 ◽  
Author(s):  
Dan Ehninger ◽  
Alcino J. Silva
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
Single Gene ◽  
Gene Mutations ◽  
Extended Version ◽  
Single Gene Disorder ◽  
Autosomal Dominant Pattern ◽  
Organ Systems ◽  
The Brain

Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)

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