A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi; Johanna Palmio; Anni Evila; Lucia Galli; Virginia Barone; Tracy A. Caldwell; Rachel A. Policke; Esraa Aldkheil; Christopher E. Berndsen; Nathan T. Wright; Edoardo Malfatti; Guy Brochier; Enrico Pierantozzi; Albena Jordanova; Velina Guergueltcheva; Norma Beatriz Romero; Peter Hackman; Bruno Eymard; Bjarne Udd; Vincenzo Sorrentino

doi:10.1371/journal.pone.0186642

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, Anni Evila, Lucia Galli, Virginia Barone, Tracy A. Caldwell, Rachel A. Policke, Esraa Aldkheil, Christopher E. Berndsen, Nathan T. Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	0186642
Tidskrift	PLoS One
Volym	12
Nummer	10
Antal sidor	21
ISSN	1932-6203
DOI	https://doi.org/10.1371/journal.pone.0186642
Status	Publicerad - 26 okt. 2017
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1371/journal.pone.0186642

A novel FLNC frameshiftSlutlig publicerad version, 8,96 MBLicens: CC BY

Citera det här

Rossi, D., Palmio, J., Evila, A., Galli, L., Barone, V., Caldwell, T. A., Policke, R. A., Aldkheil, E., Berndsen, C. E., Wright, N. T., Malfatti, E., Brochier, G., Pierantozzi, E., Jordanova, A., Guergueltcheva, V., Romero, N. B., Hackman, P., Eymard, B., Udd, B., & Sorrentino, V. (2017). A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. PLoS One, 12(10), [0186642]. https://doi.org/10.1371/journal.pone.0186642

@article{422df5023be946028d7914cde6362924,

title = "A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy",

keywords = "FILAMIN-C, MYOFIBRILLAR MYOPATHY, SARCOPLASMIC-RETICULUM, PROTEIN AGGREGATION, M-BAND, OBSCURIN, DOMAIN, MUTATIONS, INTEGRITY, DIAGNOSIS, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Daniela Rossi and Johanna Palmio and Anni Evila and Lucia Galli and Virginia Barone and Caldwell, {Tracy A.} and Policke, {Rachel A.} and Esraa Aldkheil and Berndsen, {Christopher E.} and Wright, {Nathan T.} and Edoardo Malfatti and Guy Brochier and Enrico Pierantozzi and Albena Jordanova and Velina Guergueltcheva and Romero, {Norma Beatriz} and Peter Hackman and Bruno Eymard and Bjarne Udd and Vincenzo Sorrentino",

year = "2017",

month = oct,

day = "26",

doi = "10.1371/journal.pone.0186642",

language = "English",

volume = "12",

journal = "PLoS One",

issn = "1932-6203",

publisher = "PUBLIC LIBRARY OF SCIENCE",

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Rossi, D, Palmio, J, Evila, A, Galli, L, Barone, V, Caldwell, TA, Policke, RA, Aldkheil, E, Berndsen, CE, Wright, NT, Malfatti, E, Brochier, G, Pierantozzi, E, Jordanova, A, Guergueltcheva, V, Romero, NB, Hackman, P, Eymard, B, Udd, B & Sorrentino, V 2017, 'A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy', PLoS One, vol. 12, nr. 10, 0186642. https://doi.org/10.1371/journal.pone.0186642

TY - JOUR

T1 - A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

AU - Rossi, Daniela

AU - Palmio, Johanna

AU - Evila, Anni

AU - Galli, Lucia

AU - Barone, Virginia

AU - Caldwell, Tracy A.

AU - Policke, Rachel A.

AU - Aldkheil, Esraa

AU - Berndsen, Christopher E.

AU - Wright, Nathan T.

AU - Malfatti, Edoardo

AU - Brochier, Guy

AU - Pierantozzi, Enrico

AU - Jordanova, Albena

AU - Guergueltcheva, Velina

AU - Romero, Norma Beatriz

AU - Hackman, Peter

AU - Eymard, Bruno

AU - Udd, Bjarne

AU - Sorrentino, Vincenzo

PY - 2017/10/26

Y1 - 2017/10/26

KW - FILAMIN-C

KW - MYOFIBRILLAR MYOPATHY

KW - SARCOPLASMIC-RETICULUM

KW - PROTEIN AGGREGATION

KW - M-BAND

KW - OBSCURIN

KW - DOMAIN

KW - MUTATIONS

KW - INTEGRITY

KW - DIAGNOSIS

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1371/journal.pone.0186642

DO - 10.1371/journal.pone.0186642

M3 - Article

VL - 12

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 10

M1 - 0186642

ER -