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

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Veröffentlicht in:	Neurological sciences 2024-02, Vol.45 (2), p.819-823
Hauptverfasser:	Decio, Alice, Giorda, Roberto, Panzeri, Elena, Bassi, Maria Teresa, D’Angelo, Maria Grazia
Format:	Artikel
Sprache:	eng
Schlagworte:	High-Throughput Nucleotide Sequencing Humans Letter to the Editor Medicine Medicine & Public Health Muscular Diseases - diagnosis Muscular Diseases - genetics Mutation Myopathy Neurology Neuroradiology Neurosurgery Next-generation sequencing Phenotype Phenotypes Psychiatry Transcription Factors - genetics
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