Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
The TNNT1 gene encoding the slow skeletal muscle TnT has been identified as a causative gene for nemaline myopathy. TNNT1 nemaline myopathy is mainly characterized by neonatal-onset muscle weakness, pectus carinatum and respiratory insufficiency. Herein, we report on a Chinese girl with TNNT1 nemaline myopathy with mild clinical phenotypes without...
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Full title
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
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TN_cdi_proquest_miscellaneous_2743507150
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2743507150
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-022-01096-z
