A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Aurélien Perrin; Corinne Metay; Marcello Villanova; Robert Yves Carlier; Elena Pegoraro; Raul Juntas Morales; Tanya Stojkovic; Isabelle Richard; Pascale Richard; Norma B. Romero; Henk Granzier; Michel Koenig; Edoardo Malfatti; Mireille Cossée

doi:10.1002/acn3.51031

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée

Physiology

Research output: Contribution to journal › Article

Abstract

Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TTN variants predicted to affect titin stability and titin-myosin interactions. Muscle biopsies showed multicores, type 1 fiber uniformity and sarcomeric structure disruption with some thick filament loss. Immunohistochemistry and Western blotting revealed a marked reduction of fast myosin heavy chain isoforms. This is the first observation of a titinopathy suggesting that titin defect leads to secondary loss of fast myosin heavy chain isoforms.

Original language	English (US)
Pages (from-to)	846-854
Number of pages	9
Journal	Annals of Clinical and Translational Neurology
Volume	7
Issue number	5
DOIs	https://doi.org/10.1002/acn3.51031
State	Published - May 1 2020

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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Perrin, A., Metay, C., Villanova, M., Carlier, R. Y., Pegoraro, E., Juntas Morales, R., Stojkovic, T., Richard, I., Richard, P., Romero, N. B., Granzier, H., Koenig, M., Malfatti, E., & Cossée, M. (2020). A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Annals of Clinical and Translational Neurology, 7(5), 846-854. https://doi.org/10.1002/acn3.51031

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. / Perrin, Aurélien; Metay, Corinne; Villanova, Marcello; Carlier, Robert Yves; Pegoraro, Elena; Juntas Morales, Raul; Stojkovic, Tanya; Richard, Isabelle; Richard, Pascale; Romero, Norma B.; Granzier, Henk; Koenig, Michel; Malfatti, Edoardo; Cossée, Mireille.

In: Annals of Clinical and Translational Neurology, Vol. 7, No. 5, 01.05.2020, p. 846-854.

Research output: Contribution to journal › Article

Perrin, A, Metay, C, Villanova, M, Carlier, RY, Pegoraro, E, Juntas Morales, R, Stojkovic, T, Richard, I, Richard, P, Romero, NB, Granzier, H, Koenig, M, Malfatti, E & Cossée, M 2020, 'A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency', Annals of Clinical and Translational Neurology, vol. 7, no. 5, pp. 846-854. https://doi.org/10.1002/acn3.51031

Perrin, Aurélien ; Metay, Corinne ; Villanova, Marcello ; Carlier, Robert Yves ; Pegoraro, Elena ; Juntas Morales, Raul ; Stojkovic, Tanya ; Richard, Isabelle ; Richard, Pascale ; Romero, Norma B. ; Granzier, Henk ; Koenig, Michel ; Malfatti, Edoardo ; Cossée, Mireille. / A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. In: Annals of Clinical and Translational Neurology. 2020 ; Vol. 7, No. 5. pp. 846-854.

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AU - Stojkovic, Tanya

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AU - Romero, Norma B.

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