Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Minttu Marttila; Vilma-Lotta Lehtokari; Steven Marston; Tuula A. Nyman; Christine Barnerias; Alan H. Beggs; Enrico Bertini; Oezge Ceyhan-Birsoy; Pascal Cintas; Marion Gerard; Brigitte Gilbert-Dussardier; Jacob S. Hogue; Cheryl Longman; Bruno Eymard; Moshe Frydman; Peter B. Kang; Lars Klinge; Hanna Kolski; Hans Lochmueller; Laurent Magy; Veronique Manel; Michele Mayer; Eugenio Mercuri; Kathryn N. North; Sylviane Peudenier-Robert; Helena Pihko; Frank J. Probst; Ricardo Reisin; Willie Stewart; Ana Lia Taratuto; Marianne de Visser; Ekkehard Wilichowski; John Winer; Kristen Nowak; Nigel G. Laing; Tom L. Winder; Nicole Monnier; Nigel F. Clarke; Katarina Pelin; Mikaela Gronholm; Carina Wallgren-Pettersson

doi:10.1002/humu.22554

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Oezge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmueller, Laurent MagyVeronique Manel, Michele Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Gronholm, Carina Wallgren-Pettersson

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

Original language	English
Journal	Human mutation
Volume	35
Issue number	7
Pages (from-to)	779-790
Number of pages	12
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.22554
Publication status	Published - Jul 2014
MoE publication type	A1 Journal article-refereed

Fields of Science

congenital myopathy
genotype-phenotype correlation
TPM2
TPM3
actin
hypercontractile phenotype
FIBER-TYPE DISPROPORTION
SLOW ALPHA-TROPOMYOSIN
NEMALINE MYOPATHY
ACTIN-BINDING
CAP DISEASE
PROTEIN-PHOSPHORYLATION
FUNCTIONAL-PROPERTIES
MASS-SPECTROMETRY
GENETIC FINDINGS
STRIATED-MUSCLE
3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1002/humu.22554

Cite this

Marttila, M., Lehtokari, V.-L., Marston, S., Nyman, T. A., Barnerias, C., Beggs, A. H., Bertini, E., Ceyhan-Birsoy, O., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J. S., Longman, C., Eymard, B., Frydman, M., Kang, P. B., Klinge, L., Kolski, H., Lochmueller, H., ... Wallgren-Pettersson, C. (2014). Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies. Human mutation, 35(7), 779-790. https://doi.org/10.1002/humu.22554

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title = "Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies",

keywords = "congenital myopathy, genotype-phenotype correlation, TPM2, TPM3, actin, hypercontractile phenotype, FIBER-TYPE DISPROPORTION, SLOW ALPHA-TROPOMYOSIN, NEMALINE MYOPATHY, ACTIN-BINDING, CAP DISEASE, PROTEIN-PHOSPHORYLATION, FUNCTIONAL-PROPERTIES, MASS-SPECTROMETRY, GENETIC FINDINGS, STRIATED-MUSCLE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Minttu Marttila and Vilma-Lotta Lehtokari and Steven Marston and Nyman, {Tuula A.} and Christine Barnerias and Beggs, {Alan H.} and Enrico Bertini and Oezge Ceyhan-Birsoy and Pascal Cintas and Marion Gerard and Brigitte Gilbert-Dussardier and Hogue, {Jacob S.} and Cheryl Longman and Bruno Eymard and Moshe Frydman and Kang, {Peter B.} and Lars Klinge and Hanna Kolski and Hans Lochmueller and Laurent Magy and Veronique Manel and Michele Mayer and Eugenio Mercuri and North, {Kathryn N.} and Sylviane Peudenier-Robert and Helena Pihko and Probst, {Frank J.} and Ricardo Reisin and Willie Stewart and Taratuto, {Ana Lia} and {de Visser}, Marianne and Ekkehard Wilichowski and John Winer and Kristen Nowak and Laing, {Nigel G.} and Winder, {Tom L.} and Nicole Monnier and Clarke, {Nigel F.} and Katarina Pelin and Mikaela Gronholm and Carina Wallgren-Pettersson",

year = "2014",

month = jul,

doi = "10.1002/humu.22554",

language = "English",

volume = "35",

pages = "779--790",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss",

number = "7",

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Marttila, M, Lehtokari, V-L, Marston, S, Nyman, TA, Barnerias, C, Beggs, AH, Bertini, E, Ceyhan-Birsoy, O, Cintas, P, Gerard, M, Gilbert-Dussardier, B, Hogue, JS, Longman, C, Eymard, B, Frydman, M, Kang, PB, Klinge, L, Kolski, H, Lochmueller, H, Magy, L, Manel, V, Mayer, M, Mercuri, E, North, KN, Peudenier-Robert, S, Pihko, H, Probst, FJ, Reisin, R, Stewart, W, Taratuto, AL, de Visser, M, Wilichowski, E, Winer, J, Nowak, K, Laing, NG, Winder, TL, Monnier, N, Clarke, NF, Pelin, K , Gronholm, M & Wallgren-Pettersson, C 2014, 'Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies', Human mutation, vol. 35, no. 7, pp. 779-790. https://doi.org/10.1002/humu.22554

TY - JOUR

T1 - Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

AU - Marttila, Minttu

AU - Lehtokari, Vilma-Lotta

AU - Marston, Steven

AU - Nyman, Tuula A.

AU - Barnerias, Christine

AU - Beggs, Alan H.

AU - Bertini, Enrico

AU - Ceyhan-Birsoy, Oezge

AU - Cintas, Pascal

AU - Gerard, Marion

AU - Gilbert-Dussardier, Brigitte

AU - Hogue, Jacob S.

AU - Longman, Cheryl

AU - Eymard, Bruno

AU - Frydman, Moshe

AU - Kang, Peter B.

AU - Klinge, Lars

AU - Kolski, Hanna

AU - Lochmueller, Hans

AU - Magy, Laurent

AU - Manel, Veronique

AU - Mayer, Michele

AU - Mercuri, Eugenio

AU - North, Kathryn N.

AU - Peudenier-Robert, Sylviane

AU - Pihko, Helena

AU - Probst, Frank J.

AU - Reisin, Ricardo

AU - Stewart, Willie

AU - Taratuto, Ana Lia

AU - de Visser, Marianne

AU - Wilichowski, Ekkehard

AU - Winer, John

AU - Nowak, Kristen

AU - Laing, Nigel G.

AU - Winder, Tom L.

AU - Monnier, Nicole

AU - Clarke, Nigel F.

AU - Pelin, Katarina

AU - Gronholm, Mikaela

AU - Wallgren-Pettersson, Carina

PY - 2014/7

Y1 - 2014/7

KW - congenital myopathy

KW - genotype-phenotype correlation

KW - TPM2

KW - TPM3

KW - actin

KW - hypercontractile phenotype

KW - FIBER-TYPE DISPROPORTION

KW - SLOW ALPHA-TROPOMYOSIN

KW - NEMALINE MYOPATHY

KW - ACTIN-BINDING

KW - CAP DISEASE

KW - PROTEIN-PHOSPHORYLATION

KW - FUNCTIONAL-PROPERTIES

KW - MASS-SPECTROMETRY

KW - GENETIC FINDINGS

KW - STRIATED-MUSCLE

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1002/humu.22554

DO - 10.1002/humu.22554

M3 - Article

SN - 1059-7794

VL - 35

SP - 779

EP - 790

JO - Human mutation

JF - Human mutation

IS - 7

ER -