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]