Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

Highlights • Congenital hypomyelinating neuropathy may be due to mutations in various genes. • Through our observation, we suggest new insights into the role of this protein. • PMP22 is required for mesaxon formation.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2016-04, Vol.26 (4-5), p.316-321
Main Authors: Jouaud, Maxime, Gonnaud, Pierre-Marie, Richard, Laurence, Latour, Philippe, Ollagnon-Roman, Elisabeth, Sturtz, Franck, Mathis, Stéphane, Magy, Laurent, Vallat, Jean-Michel
Format: Article
Language:English
Subjects:
Biopsy
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
Charcot-Marie-Tooth Disease - physiopathology
Child, Preschool
CMT
Congenital hypomyelinating neuropathy
Humans
Life Sciences
Male
Myelin Proteins - genetics
Myelin Proteins - metabolism
Nerve biopsy
Neural Conduction - genetics
Neurology
PMP22
Point Mutation
RNA, Messenger - metabolism
Sequence Deletion
Sural Nerve - pathology
Sural Nerve - physiopathology
Young Adult
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Description
Summary:Highlights • Congenital hypomyelinating neuropathy may be due to mutations in various genes. • Through our observation, we suggest new insights into the role of this protein. • PMP22 is required for mesaxon formation.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2016.01.004