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Type: Journal article
Title: A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Author: Donnelly, A.
Haan, E.
Manson, J.
Mulley, J.
Citation: Human Mutation, 1998; 11(4):334
Publisher: WILEY-LISS
Issue Date: 1998
ISSN: 1059-7794
Abstract: The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband and his mother, compared to that observed upon analysis of the PCR products from other members of the family and 159 unrelated X chromosomes. Sequencing revealed a C775 to T transition, in the proband and his mother, but not in his unaffected brother. To confirm the presence of a base change in this region, a Cfol site was introduced into the PCR product of the wildtype allele by using the forward primer 5'-AGAAAATAAGACGGTCATTGcG-3' (mismatch base in small font) with the exon b reverse primer as used by Laporte et al (1996). Analysis of DNA from other members of the family using this method revealed that this is a new mutation in the proband's mother. This mutation would result in a Arg259->Cys substitution.
Keywords: X Chromosome; Humans; Muscular Diseases; Cysteine; Arginine; Amino Acid Substitution; Polymerase Chain Reaction; Mutation; Alleles; Exons; Female; Male; Protein Tyrosine Phosphatases; Protein Tyrosine Phosphatases, Non-Receptor
Description: Article first published online: 22 NOV 1999
Rights: Copyright © 1998 Wiley-Liss, Inc.
RMID: 0030004291
DOI: 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.3.CO;2-R
Published version:;2-%23/abstract
Appears in Collections:Genetics publications

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