Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620224
Title:
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Authors:
Ingram, G.; Barwick, K. E. S.; Hartley, L.; McEntagart, M. E.; Crosby, Andrew H.; Llewelyn, G.; Morris, H. R.
Abstract:
Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty in singing, from early vocal cord dysfunction. This rare neuropathy has now been identified in two apparently unrelated families in Wales. This family's clinical presentation is typical of distal hereditary motor neuropathy type 7, and they have the common truncating mutation in the SLC5A7 gene. Advances in genetic analysis of these rare conditions broaden our understanding of their potential molecular mechanisms and may allow more directed therapy.
Citation:
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 2016, 16 (3):247-51 Pract Neurol
Publisher:
BMJ
Journal:
Practical Neurology
Issue Date:
Jun-2016
URI:
http://hdl.handle.net/11287/620224
DOI:
10.1136/practneurol-2015-001307
PubMed ID:
26786006
Additional Links:
http://pn.bmj.com/cgi/pmidlookup?view=long&pmid=26786006
Type:
Journal Article
Language:
en
ISSN:
1474-7766
Appears in Collections:
Honorary contracts publications; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorIngram, G.en
dc.contributor.authorBarwick, K. E. S.en
dc.contributor.authorHartley, L.en
dc.contributor.authorMcEntagart, M. E.en
dc.contributor.authorCrosby, Andrew H.en
dc.contributor.authorLlewelyn, G.en
dc.contributor.authorMorris, H. R.en
dc.date.accessioned2017-02-21T12:11:16Z-
dc.date.available2017-02-21T12:11:16Z-
dc.date.issued2016-06-
dc.identifier.citationDistal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 2016, 16 (3):247-51 Pract Neurolen
dc.identifier.issn1474-7766-
dc.identifier.pmid26786006-
dc.identifier.doi10.1136/practneurol-2015-001307-
dc.identifier.urihttp://hdl.handle.net/11287/620224-
dc.description.abstractPatients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty in singing, from early vocal cord dysfunction. This rare neuropathy has now been identified in two apparently unrelated families in Wales. This family's clinical presentation is typical of distal hereditary motor neuropathy type 7, and they have the common truncating mutation in the SLC5A7 gene. Advances in genetic analysis of these rare conditions broaden our understanding of their potential molecular mechanisms and may allow more directed therapy.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://pn.bmj.com/cgi/pmidlookup?view=long&pmid=26786006en
dc.rightsArchived with thanks to Practical neurologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Neurologyen
dc.titleDistal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.en
dc.typeJournal Articleen
dc.identifier.journalPractical Neurologyen
dc.type.versionPublisheden

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