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Case Reports
. 1999 Nov;65(5):1459-62.
doi: 10.1086/302636.

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21

K Grohmann, T F Wienker, K Saar, S Rudnik-Schöneborn, G Stoltenburg-Didinger, R Rossi, G Novelli, G Nürnberg, A Pfeufer, B Wirth, A Reis, K Zerres, C Hübner
Case Reports

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21

K Grohmann et al. Am J Hum Genet. 1999 Nov.
No abstract available

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Figures

Figure 1
Figure 1
Haplotypes in families with diaphragmatic SMA subtypes. A, Family 1 (Lebanese origin): age at onset, 6–10 wk. B, Family 2 (German origin): age at onset, 9–12 wk. C, Family 3 (Italian origin): onset at birth. Haplotype analysis indicated that the cosegregating segment of the SMARD locus is flanked proximally by marker D11S1883 and distally by marker D11S917. Family 3 has no linkage to the SMARD locus. Blackened squares represent affected males; unblackened squares, unaffected males; blackened circles, affected females; unblackened circles, unaffected females; double line (in A), consanguinity.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Généthon, ftp://ftp.genethon.fr/pub/Gmap/Nature-1995/data/ (for genetic markers)
    1. Marshfield Medical Research Foundation Center for Medical Genetics, http://www.marshmed.org/genetics/ (for genetic markers)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SMA1 [MIM 253300]) - PubMed

References

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    1. Grohmann K, Hübner C, Saar K, Stoltenburg-Didinger G, Wienker T (1998) Diaphragmatic spinal muscular atrophy (SMAD) is not the homologue counterpart to murine progressive motoneuron disease (pmn). Paper presented at the 5th Workshop Neurogenetics in Germany, Freiburg, Germany, October 22–24
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