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(Ataluren in DMD - version 1.0 - 23.11.2019 - 5 A4 pages) A proposed extension of Ataluren indications (with future deserved studies) in patients with Duchenne muscular dystrophy (DMD) caused by frameshift mutations of dystrophin gene associated with abno

Author:

Dragoi, Andrei-Lucian M.

Category:

Essays

Sub-Category:

Biology / Medicine

Language:

English

Date Published:

December 5, 2019

File:

/Essays-Biology / Medicine/Download/8030

Downloads:

423

Keywords:

an extension of Ataluren indications , Duchenne muscular dystrophy (DMD)

Abstract:

This paper proposes an extension of Ataluren indications (with future deserved studies) in patients with Duchenne muscular dystrophy (DMD) caused by frameshift mutations of dystrophin (dys) gene (dys-gene; aka “DMD gene”) associated with abnormal premature stop codons at distance from the site of that given frameshift mutation (which mutation may affect the dys-gene starting from exons with high index more close to 79 than to 1): some strong arguments are presented in favor of this new extension proposal; a redefinition of nonsense mutation in both stricto sensu and lato sensu are also presented (emphasizing that frameshift mutations [FSMs] and nonsense mutations [NSMs] [in lato sensu] may come in association).

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