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Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.

Authors
  • Minassian, B A
  • Aiyar, R
  • Alic, S
  • Banwell, B
  • Villanova, M
  • Fardeau, M
  • Mandell, J W
  • Juel, V C
  • Rafii, M
  • Auranen, M
  • Kalimo, H
Type
Published Article
Journal
Neurology
Publication Date
Aug 27, 2002
Volume
59
Issue
4
Pages
596–601
Identifiers
PMID: 12196656
Source
Medline
License
Unknown

Abstract

This study doubles the number of reported families with XMEA and more firmly establishes its distinctive clinicopathologic features. It also advances the search for the XMEA causative defect by reducing the disease locus to approximately half its previous size, assembling an almost complete sequence of the refined region, identifying all known genes in this sequence, and excluding the presence of mutations in 10% of these genes.

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