Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E.
Cardone N, et al.
Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4.
Acta Neuropathol Commun. 2023.
PMID: 36945066
Free PMC article.
In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscular weakness, and a novel homozygous TTN pathogenic variant in a metatranscript-only exon: the c.36400A > T, p.Lys12134*. Muscle bi …
In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscul …