Autosomal recessive variant of the Charcot-Marie-Tooth syndrome

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

Research output: Contribution to journalReview article

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 languageEnglish (US)
Pages (from-to)78-80
Number of pages3
JournalJournal, Indian Academy of Clinical Medicine
Volume8
Issue number1
StatePublished - Jan 2007
Externally publishedYes

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Charcot-Marie-Tooth Disease
Hereditary Sensory and Motor Neuropathy
Consanguinity
Population
Tooth

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Autosomal recessive variant of the Charcot-Marie-Tooth syndrome. / Saini, Kamal S.; Patnaik, Mrinal M; Saini, Monika Lamba; Deshpande, Alaka K.

In: Journal, Indian Academy of Clinical Medicine, Vol. 8, No. 1, 01.2007, p. 78-80.

Research output: Contribution to journalReview article

Saini, Kamal S. ; Patnaik, Mrinal M ; Saini, Monika Lamba ; Deshpande, Alaka K. / Autosomal recessive variant of the Charcot-Marie-Tooth syndrome. In: Journal, Indian Academy of Clinical Medicine. 2007 ; Vol. 8, No. 1. pp. 78-80.
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