Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy
نویسندگان
چکیده
منابع مشابه
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the...
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متن کاملGenetics of Childhood Spinal Muscular Atrophy ELIZABETH
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملGenetics of childhood spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملPlastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby suggesting the influence of modifier genes. We discovered that unaffected SMN1-deleted females exhib...
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ژورنال
عنوان ژورنال: Molecular Medicine
سال: 1996
ISSN: 1076-1551,1528-3658
DOI: 10.1007/bf03401899