Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evila; Johanna Palmio; Anna Vihola; Marco Savarese; Giorgio Tasca; Sini Penttila; Sara Lehtinen; Per Harald Jonson; Jan De Bleecker; Peter Rainer; Michaela Auer-Grumbach; Jean Pouget; Emmanuelle Salort-Campana; Juan J. Vilchez; Nuria Muelas; Montse Olive; Peter Hackman; Bjarne Udd

doi:10.1007/s12035-016-0242-3

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evila, Johanna Palmio, Anna Vihola, Marco Savarese, Giorgio Tasca, Sini Penttila, Sara Lehtinen, Per Harald Jonson, Jan De Bleecker, Peter Rainer, Michaela Auer-Grumbach, Jean Pouget, Emmanuelle Salort-Campana, Juan J. Vilchez, Nuria Muelas, Montse Olive, Peter Hackman, Bjarne Udd

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

Original language	English
Journal	Molecular Neurobiology
Volume	54
Issue number	9
Pages (from-to)	7212-7223
Number of pages	12
ISSN	0893-7648
DOIs	https://doi.org/10.1007/s12035-016-0242-3
Publication status	Published - Nov 2017
MoE publication type	A1 Journal article-refereed

Fields of Science

Distal myopathy
Titinopathy
Titin
TTN
TIBIAL MUSCULAR-DYSTROPHY
C-TERMINAL TITIN
LARGE FAMILY
M-BAND
MYOPATHY
PHENOTYPES
CALPAIN
GENE
3111 Biomedicine

Access to Document

10.1007/s12035-016-0242-3

Targeted Next-GenerationFinal published version, 2.64 MB

http://rdcu.be/xz9a

Cite this

Evila, A., Palmio, J., Vihola, A., Savarese, M., Tasca, G., Penttila, S., Lehtinen, S., Jonson, P. H., De Bleecker, J., Rainer, P., Auer-Grumbach, M., Pouget, J., Salort-Campana, E., Vilchez, J. J., Muelas, N., Olive, M., Hackman, P., & Udd, B. (2017). Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. Molecular Neurobiology, 54(9), 7212-7223. https://doi.org/10.1007/s12035-016-0242-3

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title = "Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy",

keywords = "Distal myopathy, Titinopathy, Titin, TTN, TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, LARGE FAMILY, M-BAND, MYOPATHY, PHENOTYPES, CALPAIN, GENE, 3111 Biomedicine",

author = "Anni Evila and Johanna Palmio and Anna Vihola and Marco Savarese and Giorgio Tasca and Sini Penttila and Sara Lehtinen and Jonson, {Per Harald} and {De Bleecker}, Jan and Peter Rainer and Michaela Auer-Grumbach and Jean Pouget and Emmanuelle Salort-Campana and Vilchez, {Juan J.} and Nuria Muelas and Montse Olive and Peter Hackman and Bjarne Udd",

year = "2017",

month = nov,

doi = "10.1007/s12035-016-0242-3",

language = "English",

volume = "54",

pages = "7212--7223",

journal = "Molecular Neurobiology",

issn = "0893-7648",

publisher = "Springer",

number = "9",

}

Evila, A, Palmio, J, Vihola, A , Savarese, M, Tasca, G, Penttila, S, Lehtinen, S, Jonson, PH, De Bleecker, J, Rainer, P, Auer-Grumbach, M, Pouget, J, Salort-Campana, E, Vilchez, JJ, Muelas, N, Olive, M, Hackman, P & Udd, B 2017, 'Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy', Molecular Neurobiology, vol. 54, no. 9, pp. 7212-7223. https://doi.org/10.1007/s12035-016-0242-3

TY - JOUR

T1 - Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

AU - Evila, Anni

AU - Palmio, Johanna

AU - Vihola, Anna

AU - Savarese, Marco

AU - Tasca, Giorgio

AU - Penttila, Sini

AU - Lehtinen, Sara

AU - Jonson, Per Harald

AU - De Bleecker, Jan

AU - Rainer, Peter

AU - Auer-Grumbach, Michaela

AU - Pouget, Jean

AU - Salort-Campana, Emmanuelle

AU - Vilchez, Juan J.

AU - Muelas, Nuria

AU - Olive, Montse

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2017/11

Y1 - 2017/11

KW - Distal myopathy

KW - Titinopathy

KW - Titin

KW - TTN

KW - TIBIAL MUSCULAR-DYSTROPHY

KW - C-TERMINAL TITIN

KW - LARGE FAMILY

KW - M-BAND

KW - MYOPATHY

KW - PHENOTYPES

KW - CALPAIN

KW - GENE

KW - 3111 Biomedicine

U2 - 10.1007/s12035-016-0242-3

DO - 10.1007/s12035-016-0242-3

M3 - Article

SN - 0893-7648

VL - 54

SP - 7212

EP - 7223

JO - Molecular Neurobiology

JF - Molecular Neurobiology

IS - 9

ER -