Autosomal recessive variant of the Charcot-Marie-Tooth syndrome

Kamal S. Saini; Mrinal M. Patnaik; Monika Lamba Saini; Alaka K. Deshpande

Autosomal recessive variant of the Charcot-Marie-Tooth syndrome

Kamal S. Saini, Mrinal M. Patnaik, Monika Lamba Saini, Alaka K. Deshpande

Hematology

Research output: Contribution to journal › Review article › peer-review

Abstract

Charcot-Marie-Tooth (CMT) syndrome comprises of a group of hereditary sensori-motor neuropathies (HMSN). The most common form seen in the population is the autosomal dominant (AD) demyelinating type. Another form is the rare autosomal recessive (AR) variety, which is typically distributed worldwide amongst populations with inherent practices of consanguinity. This report describes two brothers belonging to a nomadic gypsy tribe of Maharashtra; both being afflicted with the AR form of CMT.

Original language	English (US)
Pages (from-to)	78-80
Number of pages	3
Journal	Journal, Indian Academy of Clinical Medicine
Volume	8
Issue number	1
State	Published - Jan 1 2007

Keywords

Autosomal recessive
Charcot-Marie-Tooth syndrome
Hereditary motor sensory neuropathy

ASJC Scopus subject areas

Medicine(all)

Cite this

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title = "Autosomal recessive variant of the Charcot-Marie-Tooth syndrome",

abstract = "Charcot-Marie-Tooth (CMT) syndrome comprises of a group of hereditary sensori-motor neuropathies (HMSN). The most common form seen in the population is the autosomal dominant (AD) demyelinating type. Another form is the rare autosomal recessive (AR) variety, which is typically distributed worldwide amongst populations with inherent practices of consanguinity. This report describes two brothers belonging to a nomadic gypsy tribe of Maharashtra; both being afflicted with the AR form of CMT.",

keywords = "Autosomal recessive, Charcot-Marie-Tooth syndrome, Hereditary motor sensory neuropathy",

author = "Saini, {Kamal S.} and Patnaik, {Mrinal M.} and Saini, {Monika Lamba} and Deshpande, {Alaka K.}",

year = "2007",

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day = "1",

language = "English (US)",

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T1 - Autosomal recessive variant of the Charcot-Marie-Tooth syndrome

AU - Saini, Kamal S.

AU - Patnaik, Mrinal M.

AU - Saini, Monika Lamba

AU - Deshpande, Alaka K.

PY - 2007/1/1

Y1 - 2007/1/1

N2 - Charcot-Marie-Tooth (CMT) syndrome comprises of a group of hereditary sensori-motor neuropathies (HMSN). The most common form seen in the population is the autosomal dominant (AD) demyelinating type. Another form is the rare autosomal recessive (AR) variety, which is typically distributed worldwide amongst populations with inherent practices of consanguinity. This report describes two brothers belonging to a nomadic gypsy tribe of Maharashtra; both being afflicted with the AR form of CMT.

AB - Charcot-Marie-Tooth (CMT) syndrome comprises of a group of hereditary sensori-motor neuropathies (HMSN). The most common form seen in the population is the autosomal dominant (AD) demyelinating type. Another form is the rare autosomal recessive (AR) variety, which is typically distributed worldwide amongst populations with inherent practices of consanguinity. This report describes two brothers belonging to a nomadic gypsy tribe of Maharashtra; both being afflicted with the AR form of CMT.

KW - Autosomal recessive

KW - Charcot-Marie-Tooth syndrome

KW - Hereditary motor sensory neuropathy

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M3 - Review article

AN - SCOPUS:33847689874

SN - 0972-3560

VL - 8

SP - 78

EP - 80

JO - Journal, Indian Academy of Clinical Medicine

JF - Journal, Indian Academy of Clinical Medicine

IS - 1

ER -

Autosomal recessive variant of the Charcot-Marie-Tooth syndrome

Abstract

Keywords

ASJC Scopus subject areas

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