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. 2003 Jul;73(1):212-4.
doi: 10.1086/376418.

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

Sandy S Sung, Anna-Marie E Brassington, Patrycja A Krakowiak, John C Carey, Lynn B Jorde, Michael Bamshad

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

Sandy S Sung et al. Am J Hum Genet. 2003 Jul.
No abstract available

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Figures

Figure  1
Figure  1
Electropherogram demonstrating heterozygosity for a G→A missense mutation at nucleotide position 188 in exon 9 of TNNT3 in a family with DA2B. To confirm the presence of this mutation, we incorporated a MluI restriction site into the amplicon by mismatch PCR. The presence of the mutation eliminates this site, producing fragments of 144 bp and 110 bp in the affected mother and her two affected children (blackened symbols), whereas the unaffected father is homozygous for the 110-bp fragment.
Figure  2
Figure  2
Amino acid sequences of fast-twitch TnT in human, mouse, and bird, aligned with amino acid sequences of human slow-twitch TnT and human cardiac TnT.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for TNNT3 cDNA [accession number NM_006757])
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for DA1, DA2B, and classical Freeman-Sheldon syndrome)

References

    1. Bamshad M, Jorde LB, Carey JC (1996) A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65:277–281 - PubMed
    1. Clark KA, McElhinny AS, Beckerle MC, Gregorio CC (2002) Striated muscle cytoarchitecture: an intricate web of form and function. Annu Rev Cell Dev Biol 18:637–706 - PubMed
    1. Hinkle A, Tobacman LS (2003) Folding and function of the troponin tail domain. J Biol Chem 278:506–513 - PubMed
    1. Krakowiak PA, O’Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M (1997) A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet 60:426–432 - PMC - PubMed
    1. Palm T, Graboski S, Hitchcock-DeGregori E, Greenfield NJ (2001) Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. Biophys J 81:2827–2837 - PMC - PubMed

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