sphingosine-kinase and Brachial-Plexus-Neuritis

sphingosine-kinase has been researched along with Brachial-Plexus-Neuritis* in 1 studies

Other Studies

1 other study(ies) available for sphingosine-kinase and Brachial-Plexus-Neuritis

Article	Year
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. Muscle & nerve, 2004, Volume: 29, Issue:4 Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms. Topics: Amino Acid Substitution; Brachial Plexus Neuritis; Cytoglobin; DNA Mutational Analysis; DNA, Complementary; Exons; Genetic Testing; Genomic Library; Globins; Humans; Molecular Sequence Data; Phosphotransferases (Alcohol Group Acceptor); Point Mutation; Polymorphism, Single Nucleotide; Tissue Inhibitor of Metalloproteinase-2	2004

Article

Year

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.

Muscle & nerve, 2004, Volume: 29, Issue:4

Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.

Topics: Amino Acid Substitution; Brachial Plexus Neuritis; Cytoglobin; DNA Mutational Analysis; DNA, Complementary; Exons; Genetic Testing; Genomic Library; Globins; Humans; Molecular Sequence Data; Phosphotransferases (Alcohol Group Acceptor); Point Mutation; Polymorphism, Single Nucleotide; Tissue Inhibitor of Metalloproteinase-2

2004