Charcot-marie-tooth diseases

Florian P. Thomas; Velina Guergueltcheva; Francisco De Assis Aquino Gondim; Albena Jordanova

doi:10.1007/978-1-4614-6567-6_26

Charcot-marie-tooth diseases

Florian P. Thomas
, Velina Guergueltcheva
, Francisco De Assis Aquino Gondim
, Albena Jordanova

School of Medicine

Medical University Sofia
Universidade Federal do Ceará
University of Antwerp

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

1 Scopus citations

Abstract

Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability to pressure palsy. Other rare mutations, hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary sensory neuropathies, and neuropathies with multiorgan disturbance, prominent central nervous system involvement, or specific metabolic dysfunction are reviewed briefly.

Original language	English
Title of host publication	Neuromuscular Disorders in Clinical Practice
Publisher	Springer New York
Pages	519-547
Number of pages	29
ISBN (Electronic)	9781461465676
ISBN (Print)	1461465664, 9781461465669
DOIs	https://doi.org/10.1007/978-1-4614-6567-6_26
State	Published - 1 Nov 2013

Keywords

AARS
CMT
conduction velocities
CX32
EGR2
GARS
HMSN
KARS
MPZ
peripheral nerves
PMP22
YARS

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10.1007/978-1-4614-6567-6_26

Cite this

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title = "Charcot-marie-tooth diseases",

abstract = "Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability to pressure palsy. Other rare mutations, hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary sensory neuropathies, and neuropathies with multiorgan disturbance, prominent central nervous system involvement, or specific metabolic dysfunction are reviewed briefly.",

keywords = "AARS, CMT, conduction velocities, CX32, EGR2, GARS, HMSN, KARS, MPZ, peripheral nerves, PMP22, YARS",

author = "Thomas, \{Florian P.\} and Velina Guergueltcheva and \{De Assis Aquino Gondim\}, Francisco and Albena Jordanova",

note = "Publisher Copyright: {\textcopyright} 2014 Springer Science+Business Media New York. All rights are reserved.",

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doi = "10.1007/978-1-4614-6567-6\_26",

language = "English",

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AU - Thomas, Florian P.

AU - Guergueltcheva, Velina

AU - De Assis Aquino Gondim, Francisco

AU - Jordanova, Albena

PY - 2013/11/1

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AB - Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability to pressure palsy. Other rare mutations, hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary sensory neuropathies, and neuropathies with multiorgan disturbance, prominent central nervous system involvement, or specific metabolic dysfunction are reviewed briefly.

KW - AARS

KW - CMT

KW - conduction velocities

KW - CX32

KW - EGR2

KW - GARS

KW - HMSN

KW - KARS

KW - MPZ

KW - peripheral nerves

KW - PMP22

KW - YARS

UR - https://www.scopus.com/pages/publications/84929536747

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DO - 10.1007/978-1-4614-6567-6_26

M3 - Chapter

AN - SCOPUS:84929536747

SN - 1461465664

SN - 9781461465669

SP - 519

EP - 547

BT - Neuromuscular Disorders in Clinical Practice

PB - Springer New York

ER -

Charcot-marie-tooth diseases

Abstract

Keywords

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