_version_ 1783248565042151424
author Bugiardini, Enrico
Rossor, Alexander M.
Lynch, David S.
Swash, Michael
Pittman, Alan M.
Blake, Julian C.
Hanna, Michael G.
Houlden, Henry
Holton, Janice L.
Reilly, Mary M.
Matthews, Emma
author_facet Bugiardini, Enrico
Rossor, Alexander M.
Lynch, David S.
Swash, Michael
Pittman, Alan M.
Blake, Julian C.
Hanna, Michael G.
Houlden, Henry
Holton, Janice L.
Reilly, Mary M.
Matthews, Emma
author_sort Bugiardini, Enrico
collection PubMed
description
format Online
Article
Text
id pubmed-5499975
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Wolters Kluwer
record_format MEDLINE/PubMed
spelling pubmed-54999752017-07-12 Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy Bugiardini, Enrico Rossor, Alexander M. Lynch, David S. Swash, Michael Pittman, Alan M. Blake, Julian C. Hanna, Michael G. Houlden, Henry Holton, Janice L. Reilly, Mary M. Matthews, Emma Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2017-07-06 /pmc/articles/PMC5499975/ /pubmed/28702508 http://dx.doi.org/10.1212/NXG.0000000000000168 Text en Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical/Scientific Notes
Bugiardini, Enrico
Rossor, Alexander M.
Lynch, David S.
Swash, Michael
Pittman, Alan M.
Blake, Julian C.
Hanna, Michael G.
Houlden, Henry
Holton, Janice L.
Reilly, Mary M.
Matthews, Emma
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title_full Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title_fullStr Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title_full_unstemmed Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title_short Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
title_sort homozygous mutation in hspb1 causing distal vacuolar myopathy and motor neuropathy
topic Clinical/Scientific Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975/
https://www.ncbi.nlm.nih.gov/pubmed/28702508
http://dx.doi.org/10.1212/NXG.0000000000000168
work_keys_str_mv AT bugiardinienrico homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT rossoralexanderm homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT lynchdavids homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT swashmichael homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT pittmanalanm homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT blakejulianc homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT hannamichaelg homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT houldenhenry homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT holtonjanicel homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT reillymarym homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy
AT matthewsemma homozygousmutationinhspb1causingdistalvacuolarmyopathyandmotorneuropathy