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https://hdl.handle.net/2440/11467
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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 1098-1004 |
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. |
DOI: | 10.1002/(sici)1098-1004(1998)11:4<334::aid-humu20>3.3.co;2-r |
Published version: | http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1098-1004(1998)11:4%3C334::AID-HUMU20%3E3.0.CO;2-%23/abstract |
Appears in Collections: | Aurora harvest 7 Genetics publications |
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