Axon damage in CMT due to mutation in myelin protein P0

C. O. Hanemann; A. A.W.M. Gabreëls-Festen; Jonghe P De

doi:10.1016/S0960-8966(01)00229-2

Axon damage in CMT due to mutation in myelin protein P0

C. O. Hanemann^*, A. A.W.M. Gabreëls-Festen, Jonghe P De

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture

Original language	English
Pages (from-to)	753-756
Number of pages	0
Journal	Neuromuscular Disorders
Volume	11
Issue number	8
Early online date	3 Oct 2001
DOIs	https://doi.org/10.1016/S0960-8966(01)00229-2 https://doi.org/10.1016/S0960-8966(01)00229-2 https://doi.org/10.1016/S0960-8966(02)00044-5
Publication status	Published - Nov 2001

Keywords

Charcot-Marie-Tooth diseased
myelin protein P0 mutation
secondary axon damage

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title = "Axon damage in CMT due to mutation in myelin protein P0",

abstract = "We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture",

keywords = "Charcot-Marie-Tooth diseased, myelin protein P0 mutation, secondary axon damage",

author = "Hanemann, \{C. O.\} and Gabre{\"e}ls-Festen, \{A. A.W.M.\} and De, \{Jonghe P\}",

year = "2001",

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AU - Hanemann, C. O.

AU - Gabreëls-Festen, A. A.W.M.

AU - De, Jonghe P

PY - 2001/11

Y1 - 2001/11

N2 - We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture

AB - We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture

KW - Charcot-Marie-Tooth diseased

KW - myelin protein P0 mutation

KW - secondary axon damage

U2 - 10.1016/S0960-8966(01)00229-2

DO - 10.1016/S0960-8966(01)00229-2

M3 - Article

SN - 0960-8966

VL - 11

SP - 753

EP - 756

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -

Axon damage in CMT due to mutation in myelin protein P0

Abstract

Keywords

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