Bibliographic Details
| Title: |
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion. |
| Authors: |
Decio, Alice1 (AUTHOR) alice.decio@lanostrafamiglia.it, Giorda, Roberto2 (AUTHOR), Panzeri, Elena2 (AUTHOR), Bassi, Maria Teresa2 (AUTHOR), D'Angelo, Maria Grazia1 (AUTHOR) |
| Source: |
Neurological Sciences. Feb2024, Vol. 45 Issue 2, p819-823. 5p. |
| Subject Terms: |
*NEMALINE myopathy, *NUCLEOTIDE sequencing, *MUSCLE diseases, *PHENOTYPES, *SPINAL muscular atrophy, *DIAGNOSIS |
| Abstract: |
This document is a letter to the editor of the journal Neurological Sciences. It discusses the diagnosis of a rare form of congenital myopathy in an 8-year-old girl. The case highlights the importance of clinical phenotype and next-generation sequencing in diagnosing rare muscular diseases. The girl presented with symptoms such as congenital hypotonia, respiratory issues, cardiac involvement, and delayed motor and cognitive development. Through genetic testing, a homozygous deletion in the TRIP4 gene was identified, leading to a diagnosis of TRIP4 myopathy. The letter emphasizes the need for further research and genetic screening in cases of congenital myopathy and muscular dystrophy. [Extracted from the article] |
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Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
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