Molecular basis of spinal muscular atrophy in Chinese
Journal Article
·
· American Journal of Human Genetics
OSTI ID:186221
- Taipei Municipal Jen-Ai Hospital, Kaohsiung (Taiwan, Province of China); and others
Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder that is characterized by degeneration of the anterior horn cells, leading to symmetrical muscle weakness and wasting of voluntary muscles. SMA affects 1/10,000 live births and has an estimated carrier frequency of 1/40. Affected individuals are classified into three groups, depending on the age at onset and progression of the disease, and all three forms of SMA are linked to the same set of genetic markers in the chromosome. 15 refs., 3 figs.
- OSTI ID:
- 186221
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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