Giant axonal neuropathy diagnosed on skin biopsy

Mohammad, Shekeeb S., Lau, Chiyan, Burke, Christopher, McCallum, Naomi and Robertson, Thomas (2014) Giant axonal neuropathy diagnosed on skin biopsy. Journal of Clinical Neuroscience, 21 5: 865-867. doi:10.1016/j.jocn.2013.06.017


Author Mohammad, Shekeeb S.
Lau, Chiyan
Burke, Christopher
McCallum, Naomi
Robertson, Thomas
Title Giant axonal neuropathy diagnosed on skin biopsy
Journal name Journal of Clinical Neuroscience   Check publisher's open access policy
ISSN 1532-2653
0967-5868
Publication date 2014-05-01
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.jocn.2013.06.017
Volume 21
Issue 5
Start page 865
End page 867
Total pages 3
Place of publication London, United Kingdom
Publisher Churchill Livingstone
Language eng
Abstract Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to guide further genetic testing, which may or may not be readily available. We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing.
Keyword Giant axonal neuropathy
HMSN
Microarray
Skin biopsy
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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