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A Novel Mutation in...
A Novel Mutation in DMD (c.10797+5G > A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
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- Banihani, Rudaina (författare)
- Univ Toronto, Dept Paediat, Div Dev Paediat, Toronto, ON M5S 1A1, Canada.;Holland Bloorview Kids Rehabil Hosp, Child Dev Program, Toronto, ON, Canada.
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- Baskin, Berivan (författare)
- Uppsala universitet,Medicinsk genetik och genomik
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- Halliday, William (författare)
- Univ Toronto, Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada.
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visa fler...
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- Kobayashi, Jeff (författare)
- Univ Toronto, Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada.
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- Kawamura, Anne (författare)
- Univ Toronto, Dept Paediat, Div Dev Paediat, Toronto, ON M5S 1A1, Canada.;Holland Bloorview Kids Rehabil Hosp, Child Dev Program, Toronto, ON, Canada.
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- McAdam, Laura (författare)
- Univ Toronto, Dept Paediat, Div Dev Paediat, Toronto, ON M5S 1A1, Canada.;Holland Bloorview Kids Rehabil Hosp, Child Dev Program, Toronto, ON, Canada.
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- Ray, Peter N. (författare)
- Univ Toronto, Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
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- Yoon, Grace (författare)
- Univ Toronto, Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada.;Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada.
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Univ Toronto, Dept Paediat, Div Dev Paediat, Toronto, ON M5S 1A1, Canada;Holland Bloorview Kids Rehabil Hosp, Child Dev Program, Toronto, ON, Canada. Medicinsk genetik och genomik (creator_code:org_t)
- 2016
- 2016
- Engelska.
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Ingår i: Journal of Developmental and Behavioral Pediatrics. - 0196-206X .- 1536-7312. ; 37:3, s. 239-244
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background: Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy. Patient: The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile), attention-deficit hyperactivity disorder, and mild muscle weakness. He had elevated serum creatine kinase and dystrophic changes on muscle biopsy. Dystrophin immunohistochemistry revealed decreased staining with the C-terminal and mid-rod antibodies and essentially absent staining of the N-terminal immunostain. Sequencing of muscle mRNA revealed aberrant splicing due to a c.10797+5G > A mutation in DMD. Conclusion: Dystrophinopathy may be associated with predominantly cognitive impairment and neurobehavioral disorder, and should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Becker muscular dystrophy (BMD)
- dystrophin
- DMD
- Dp71 isoform
- intellectual disability
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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