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Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' reply.

作者信息

Pfeffer Gerald, Innes A Micheil, Shutt Timothy E

机构信息

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Hotchkiss Brain Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Hotchkiss Brain Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

出版信息

EBioMedicine. 2019 Nov;49:25. doi: 10.1016/j.ebiom.2019.09.047. Epub 2019 Oct 17.

DOI:10.1016/j.ebiom.2019.09.047
PMID:31631044
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6945276/
Abstract
摘要

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Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
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本文引用的文献

1
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21.
2
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20.
3
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.
4
Complications following sural and peroneal nerve biopsies.
J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1271-2. doi: 10.1136/jnnp.2007.116368. Epub 2007 Jun 5.
5
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10.

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