Genotype-phenotype correlations in recessive titinopathies

Marco Savarese; Anna Vihola; Emily C. Oates; Rita Barresi; Chiara Fiorillo; Giorgio Tasca; Manu Jokela; Anna Sarkozy; Sushan Luo; Jordi Diaz-Manera; Christoffer Ehrstedt; Ricardo Rojas-Garcia; Amets Saenz; Nuria Muelas; Fortunato Lonardo; Heidi Fodstad; Talha Qureshi; Mridul Johari; Salla Välipakka; Helena Luque; Philippe Petiot; Adolfo Lopez de Munain; Marika Pane; Eugenio Mercuri; Annalaura Torella; Vincenzo Nigro; Guja Astrea; Filippo Maria Santorelli; Claudio Bruno; Thierry Kuntzer; Isabel Illa; Juan J. Vilchez; Cedric Julien; Ana Ferreiro; Alessandro Malandrini; Chong-Bo Zhao; Olivera Casar-Borota; Mark Davis; Francesco Muntoni; Peter Hackman; Bjarne Udd

doi:10.1038/s41436-020-0914-2

Genotype-phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Diaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-Garcia, Amets Saenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, Helena LuquePhilippe Petiot, Adolfo Lopez de Munain, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo Maria Santorelli, Claudio Bruno, Thierry Kuntzer, Isabel Illa, Juan J. Vilchez, Cedric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar-Borota, Mark Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Genetics In medicine
Volume	22
Issue number	12
Pages (from-to)	2029-2040
Number of pages	12
ISSN	1098-3600
DOIs	https://doi.org/10.1038/s41436-020-0914-2
Publication status	Published - Dec 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

titin
skeletal muscle disorders
cardiomyopathy
congenital myopathy
arthrogryposis
TIBIAL MUSCULAR-DYSTROPHY
C-TERMINAL TITIN
TRUNCATING MUTATIONS
TTN
GENE
MYOPATHY
LINE
EXPRESSION
SEQUENCE
VARIANT
1184 Genetics, developmental biology, physiology

Access to Document

10.1038/s41436-020-0914-2

Cite this

Savarese, M., Vihola, A., Oates, E. C., Barresi, R., Fiorillo, C., Tasca, G., Jokela, M., Sarkozy, A., Luo, S., Diaz-Manera, J., Ehrstedt, C., Rojas-Garcia, R., Saenz, A., Muelas, N., Lonardo, F., Fodstad, H., Qureshi, T., Johari, M., Välipakka, S., ... Udd, B. (2020). Genotype-phenotype correlations in recessive titinopathies. Genetics In medicine, 22(12), 2029-2040. https://doi.org/10.1038/s41436-020-0914-2

@article{56f2a1b0ff50445391525fbec893c602,

title = "Genotype-phenotype correlations in recessive titinopathies",

keywords = "titin, skeletal muscle disorders, cardiomyopathy, congenital myopathy, arthrogryposis, TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, TRUNCATING MUTATIONS, TTN, GENE, MYOPATHY, LINE, EXPRESSION, SEQUENCE, VARIANT, 1184 Genetics, developmental biology, physiology",

author = "Marco Savarese and Anna Vihola and Oates, {Emily C.} and Rita Barresi and Chiara Fiorillo and Giorgio Tasca and Manu Jokela and Anna Sarkozy and Sushan Luo and Jordi Diaz-Manera and Christoffer Ehrstedt and Ricardo Rojas-Garcia and Amets Saenz and Nuria Muelas and Fortunato Lonardo and Heidi Fodstad and Talha Qureshi and Mridul Johari and Salla V{\"a}lipakka and Helena Luque and Philippe Petiot and {de Munain}, {Adolfo Lopez} and Marika Pane and Eugenio Mercuri and Annalaura Torella and Vincenzo Nigro and Guja Astrea and Santorelli, {Filippo Maria} and Claudio Bruno and Thierry Kuntzer and Isabel Illa and Vilchez, {Juan J.} and Cedric Julien and Ana Ferreiro and Alessandro Malandrini and Chong-Bo Zhao and Olivera Casar-Borota and Mark Davis and Francesco Muntoni and Peter Hackman and Bjarne Udd",

year = "2020",

month = dec,

doi = "10.1038/s41436-020-0914-2",

language = "English",

volume = "22",

pages = "2029--2040",

journal = "Genetics In medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

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}

Savarese, M , Vihola, A, Oates, EC, Barresi, R, Fiorillo, C, Tasca, G, Jokela, M, Sarkozy, A, Luo, S, Diaz-Manera, J, Ehrstedt, C, Rojas-Garcia, R, Saenz, A, Muelas, N, Lonardo, F, Fodstad, H, Qureshi, T, Johari, M, Välipakka, S, Luque, H, Petiot, P, de Munain, AL, Pane, M, Mercuri, E, Torella, A, Nigro, V, Astrea, G, Santorelli, FM, Bruno, C, Kuntzer, T, Illa, I, Vilchez, JJ, Julien, C, Ferreiro, A, Malandrini, A, Zhao, C-B, Casar-Borota, O, Davis, M, Muntoni, F, Hackman, P & Udd, B 2020, 'Genotype-phenotype correlations in recessive titinopathies', Genetics In medicine, vol. 22, no. 12, pp. 2029-2040. https://doi.org/10.1038/s41436-020-0914-2

TY - JOUR

T1 - Genotype-phenotype correlations in recessive titinopathies

AU - Savarese, Marco

AU - Vihola, Anna

AU - Oates, Emily C.

AU - Barresi, Rita

AU - Fiorillo, Chiara

AU - Tasca, Giorgio

AU - Jokela, Manu

AU - Sarkozy, Anna

AU - Luo, Sushan

AU - Diaz-Manera, Jordi

AU - Ehrstedt, Christoffer

AU - Rojas-Garcia, Ricardo

AU - Saenz, Amets

AU - Muelas, Nuria

AU - Lonardo, Fortunato

AU - Fodstad, Heidi

AU - Qureshi, Talha

AU - Johari, Mridul

AU - Välipakka, Salla

AU - Luque, Helena

AU - Petiot, Philippe

AU - de Munain, Adolfo Lopez

AU - Pane, Marika

AU - Mercuri, Eugenio

AU - Torella, Annalaura

AU - Nigro, Vincenzo

AU - Astrea, Guja

AU - Santorelli, Filippo Maria

AU - Bruno, Claudio

AU - Kuntzer, Thierry

AU - Illa, Isabel

AU - Vilchez, Juan J.

AU - Julien, Cedric

AU - Ferreiro, Ana

AU - Malandrini, Alessandro

AU - Zhao, Chong-Bo

AU - Casar-Borota, Olivera

AU - Davis, Mark

AU - Muntoni, Francesco

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2020/12

Y1 - 2020/12

KW - titin

KW - skeletal muscle disorders

KW - cardiomyopathy

KW - congenital myopathy

KW - arthrogryposis

KW - TIBIAL MUSCULAR-DYSTROPHY

KW - C-TERMINAL TITIN

KW - TRUNCATING MUTATIONS

KW - TTN

KW - GENE

KW - MYOPATHY

KW - LINE

KW - EXPRESSION

KW - SEQUENCE

KW - VARIANT

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41436-020-0914-2

DO - 10.1038/s41436-020-0914-2

M3 - Article

SN - 1098-3600

VL - 22

SP - 2029

EP - 2040

JO - Genetics In medicine

JF - Genetics In medicine

IS - 12

ER -