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Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21  Katja Grohmann, Thomas.

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Presentation on theme: "Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21  Katja Grohmann, Thomas."— Presentation transcript:

1 Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21  Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik-Schöneborn, Gisela Stoltenburg-Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner  The American Journal of Human Genetics  Volume 65, Issue 5, Pages (November 1999) DOI: /302636 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 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. The American Journal of Human Genetics  , DOI: ( /302636) Copyright © 1999 The American Society of Human Genetics Terms and Conditions


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