Congenital Fiber Type Disproportion Genetics

Congenital Fiber Type Disproportion Genetics

Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2008-04-01
Series:Pediatric Neurology Briefs
Subjects:
congenital fiber type disproportion
intellectual function
tpm3 mutation
Online Access:https://www.pediatricneurologybriefs.com/articles/922
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spelling doaj-342f08e3f8bd45d68b14907dbc7c5f922020-11-25T03:37:13ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822008-04-01224303110.15844/pedneurbriefs-22-4-7908Congenital Fiber Type Disproportion GeneticsJ Gordon Millichap0Northwestern University Feinberg School of MedicineNovel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.https://www.pediatricneurologybriefs.com/articles/922congenital fiber type disproportionintellectual functiontpm3 mutation
collection DOAJ
language English
format Article
sources DOAJ
author J Gordon Millichap
spellingShingle J Gordon Millichap
Congenital Fiber Type Disproportion Genetics
Pediatric Neurology Briefs
congenital fiber type disproportion
intellectual function
tpm3 mutation
author_facet J Gordon Millichap
author_sort J Gordon Millichap
title Congenital Fiber Type Disproportion Genetics
title_short Congenital Fiber Type Disproportion Genetics
title_full Congenital Fiber Type Disproportion Genetics
title_fullStr Congenital Fiber Type Disproportion Genetics
title_full_unstemmed Congenital Fiber Type Disproportion Genetics
title_sort congenital fiber type disproportion genetics
publisher Pediatric Neurology Briefs Publishers
series Pediatric Neurology Briefs
issn 1043-3155
2166-6482
publishDate 2008-04-01
description Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.
topic congenital fiber type disproportion
intellectual function
tpm3 mutation
url https://www.pediatricneurologybriefs.com/articles/922
work_keys_str_mv AT jgordonmillichap congenitalfibertypedisproportiongenetics
_version_ 1724546536087486464

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