927 resultados para Respiratory rnuscles weakness
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Thesis (M. S.) - Cornell Univ., June 1962.
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Mode of access: Internet.
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Includes Abstracts section, previously issued separately.
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"This conference was sponsored by the National Institute of Child Health and Human development."
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Mode of access: Internet.
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Mode of access: Internet.
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Bibliography: p. 151-168.
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Measuring heartbeat and respitory movements on a kymograph (source: Not Just Any Medical School by Horace W. Davenport)
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Includes bibliographical references (p. 399-442) and index.
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Mode of access: Internet.
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Mode of access: Internet.
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Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior born cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889-D11S1321, Z(max) = 4.59 at theta = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the so-me chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.