LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Tero-Pekka Alastalo; Gun West; Song-Ping Li; Anni Keinanen; Mikko Helenius; Tiina Tyni; Risto Lapatto; Maila Turanlahti; Paivi Heikkila; Helena Kääriäinen; Markku Laakso; Monika Mauermann; Harald Herrmann; Jaana Pihkala; Pekka Taimen

doi:10.1002/humu.22793

LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Tero-Pekka Alastalo, Gun West, Song-Ping Li, Anni Keinanen, Mikko Helenius, Tiina Tyni, Risto Lapatto, Maila Turanlahti, Paivi Heikkila, Helena Kääriäinen, Markku Laakso, Monika Mauermann, Harald Herrmann, Jaana Pihkala, Pekka Taimen

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

Original language	English
Journal	Human mutation
Volume	36
Issue number	7
Pages (from-to)	694-703
Number of pages	10
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.22793
Publication status	Published - Jul 2015
MoE publication type	A1 Journal article-refereed

Fields of Science

progeria
dilated cardiomyopathy
LMNA
intermediate filament
GILFORD-PROGERIA-SYNDROME
OUTFLOW TRACT
HEART
LAMINOPATHIES
ACCUMULATION
ARCHITECTURE
CELLS
ORGANIZATION
PHENOTYPE
FILAMENTS
3121 General medicine, internal medicine and other clinical medicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1002/humu.22793

Cite this

Alastalo, T.-P., West, G., Li, S.-P., Keinanen, A., Helenius, M., Tyni, T., Lapatto, R., Turanlahti, M., Heikkila, P., Kääriäinen, H., Laakso, M., Mauermann, M., Herrmann, H., Pihkala, J., & Taimen, P. (2015). LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging. Human mutation, 36(7), 694-703. https://doi.org/10.1002/humu.22793

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title = "LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging",

keywords = "progeria, dilated cardiomyopathy, LMNA, intermediate filament, GILFORD-PROGERIA-SYNDROME, OUTFLOW TRACT, HEART, LAMINOPATHIES, ACCUMULATION, ARCHITECTURE, CELLS, ORGANIZATION, PHENOTYPE, FILAMENTS, 3121 General medicine, internal medicine and other clinical medicine, 1184 Genetics, developmental biology, physiology",

author = "Tero-Pekka Alastalo and Gun West and Song-Ping Li and Anni Keinanen and Mikko Helenius and Tiina Tyni and Risto Lapatto and Maila Turanlahti and Paivi Heikkila and Helena K{\"a}{\"a}ri{\"a}inen and Markku Laakso and Monika Mauermann and Harald Herrmann and Jaana Pihkala and Pekka Taimen",

year = "2015",

month = jul,

doi = "10.1002/humu.22793",

language = "English",

volume = "36",

pages = "694--703",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss",

number = "7",

}

Alastalo, T-P, West, G, Li, S-P, Keinanen, A, Helenius, M, Tyni, T, Lapatto, R , Turanlahti, M , Heikkila, P, Kääriäinen, H, Laakso, M, Mauermann, M, Herrmann, H, Pihkala, J & Taimen, P 2015, 'LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging', Human mutation, vol. 36, no. 7, pp. 694-703. https://doi.org/10.1002/humu.22793

TY - JOUR

T1 - LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

AU - Alastalo, Tero-Pekka

AU - West, Gun

AU - Li, Song-Ping

AU - Keinanen, Anni

AU - Helenius, Mikko

AU - Tyni, Tiina

AU - Lapatto, Risto

AU - Turanlahti, Maila

AU - Heikkila, Paivi

AU - Kääriäinen, Helena

AU - Laakso, Markku

AU - Mauermann, Monika

AU - Herrmann, Harald

AU - Pihkala, Jaana

AU - Taimen, Pekka

PY - 2015/7

Y1 - 2015/7

KW - progeria

KW - dilated cardiomyopathy

KW - LMNA

KW - intermediate filament

KW - GILFORD-PROGERIA-SYNDROME

KW - OUTFLOW TRACT

KW - HEART

KW - LAMINOPATHIES

KW - ACCUMULATION

KW - ARCHITECTURE

KW - CELLS

KW - ORGANIZATION

KW - PHENOTYPE

KW - FILAMENTS

KW - 3121 General medicine, internal medicine and other clinical medicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1002/humu.22793

DO - 10.1002/humu.22793

M3 - Article

SN - 1059-7794

VL - 36

SP - 694

EP - 703

JO - Human mutation

JF - Human mutation

IS - 7

ER -