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. 1991 Mar;48(3):481-5.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

P A Bolhuis  1 , G W Hensels, T J Hulsebos, F Baas, P G Barth
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Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

P A Bolhuis et al. Am J Hum Genet. 1991 Mar.

Abstract

X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal myopathy, recurrent bacterial infections, and growth retardation. We analyzed linkage between the disease locus and X-chromosomal markers in a family with seven carriers, four patients, and eight unaffected sons of carriers. Highest lod scores obtained by two-point linkage analysis were 2.70 for St14.1 (DXS52, TaqI) at a recombination fraction of zero and 2.53 for cpX67 (DXS134) at a recombination fraction of zero. Multipoint linkage analysis resulted in a maximum lod score of 5.24 at the position of St35.691 (DXS305). The most distal recombination detected in this family was located between the markers II-10 (DXS466) and DX13 (DXS15). These data indicate the location of the mutated gene at Xq28.

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References

    1. Am J Hum Genet. 1989 Dec;45(6):873-82 - PubMed
    1. Am J Med Genet. 1987 Mar;26(3):751-60 - PubMed
    1. Am J Hum Genet. 1974 Sep;26(5):588-97 - PubMed
    1. Pediatrics. 1979 Jul;64(1):24-9 - PubMed
    1. J Neurol Sci. 1983 Dec;62(1-3):327-55 - PubMed

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