HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Takata, R I Articles by Zatz, M Search for Related Content PubMed PubMed Citation Articles by Takata, R I Articles by Zatz, M

A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21

¹ Sarah Network of Hospitals for the Locomotor System, Brasília, DF, Brazil
² Human Genome Research Center, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil
³ Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil

Correspondence to:
Dr M Zatz
CP 11.461, CEP 05422-970; mayazatz@usp.br] Received 18 November 2003
18 November 2003

Keywords: distal spinal muscular atrophy; distal hereditary motor neuronopathy; spinal type of Charcot-Marie-Tooth; new X linked distal spinal muscular atrophy; linkage analysis

Abbreviations: CMT, Charcot-Marie-Tooth; DHMN, distal hereditary motor neuronopathy; DSMA, distal spinal muscular atrophy

The first 150 words of the full text of this article appear below.

Distal spinal muscular atrophy (DSMA, OMIM #182960),¹ also known as distal hereditary motor neuronopathy (DHMN),² Charcot-Marie-Tooth (CMT) spinal type,³ and neuronal motor neuropathy of peroneal muscular atrophy^4,5 include a heterogeneous group of disorders. The primary defect responsible for these conditions lies in the lower motor neurone, with distal involvement of only lower or both lower and upper limbs.

DSMA is genetically heterogeneous. Four autosomal dominant and three autosomal recessive forms of the disease have already been mapped, including the Jerash type DHMN and congenital DSMA (table 1). However, the responsible genes were identified for only two of them: the glycil tRNA synthetase gene for DSMA type 5⁶ and the immunoglobolin µ-binding protein 2 gene (IGHMBP2) for DSMA type 6.⁷

This article has been cited by other articles:

				C. M. Poloschek, B. Kloeckener-Gruissem, L. L. Hansen, M. Bach, and W. Berger Syndromic Choroideremia: Sublocalization of Phenotypes Associated with Martin-Probst Deafness Mental Retardation Syndrome Invest. Ophthalmol. Vis. Sci., September 1, 2008; 49(9): 4096 - 4104. [Abstract] [Full Text] [PDF]