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
Neurol Sci. 2024 Feb;45(2):819-823.
doi: 10.1007/s10072-023-07102-2.
Epub 2023 Oct 4.
1 Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy. alice.decio@lanostrafamiglia.it.
3 Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.