A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

Roberta Brusa; Francesca Magri; Dimitra Papadimitriou; Alessandra Govoni; Roberto Del Bo; Patrizia Ciscato; Marco Savarese; Claudia Cinnante; Maggie C. Walter; Angela Abicht; Stefanie Bulst; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Vincenzo Nigro; Giacomo Pietro Comi

doi:10.1016/j.nmd.2018.04.006

A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

Roberta Brusa
, Francesca Magri
, Dimitra Papadimitriou
, Alessandra Govoni
, Roberto Del Bo
, Patrizia Ciscato
, Marco Savarese
, Claudia Cinnante
, Maggie C. Walter
, Angela Abicht
, Stefanie Bulst
, Stefania Corti
, Maurizio Moggio
, Nereo Bresolin
, Vincenzo Nigro
, Giacomo Pietro Comi

Forskningsoutput: Tidskriftsbidrag › Översiktsartikel › Peer review

Originalspråk	engelska
Tidskrift	Neuromuscular Disorders
Volym	28
Nummer	6
Sidor (från-till)	532-537
Antal sidor	6
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2018.04.006
Status	Publicerad - juni 2018
MoE-publikationstyp	A2 Granska artikel i en vetenskaplig tidskrift

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1016/j.nmd.2018.04.006

1-s2.0-S0960896617313767-mainAccepterat manuskript från författare, 1,27 MBLicens: CC BY-NC-ND
1-s2.0-S0960896617313767-mainSlutlig publicerad version, 1,25 MB

Citera det här

Brusa, R., Magri, F., Papadimitriou, D., Govoni, A., Del Bo, R., Ciscato, P., Savarese, M., Cinnante, C., Walter, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V., & Comi, G. P. (2018). A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature. Neuromuscular Disorders, 28(6), 532-537. https://doi.org/10.1016/j.nmd.2018.04.006

@article{42bc41accaa44c7c9585bdb4d29a3a55,

title = "A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology, Limb Girdle Muscular Dystrophy 2G, Telethonin, TCAP gene, founder effect, DIAGNOSIS, Limb girdle muscular dystrophy 2G, TELETHONIN, Founder effect, SKELETAL-MUSCLE, SARCOMERIC PROTEIN, TCAP, LGMD2G, MUTATIONS",

author = "Roberta Brusa and Francesca Magri and Dimitra Papadimitriou and Alessandra Govoni and \{Del Bo\}, Roberto and Patrizia Ciscato and Marco Savarese and Claudia Cinnante and Walter, \{Maggie C.\} and Angela Abicht and Stefanie Bulst and Stefania Corti and Maurizio Moggio and Nereo Bresolin and Vincenzo Nigro and Comi, \{Giacomo Pietro\}",

year = "2018",

month = jun,

doi = "10.1016/j.nmd.2018.04.006",

language = "English",

volume = "28",

pages = "532--537",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd. ",

number = "6",

}

Brusa, R, Magri, F, Papadimitriou, D, Govoni, A, Del Bo, R, Ciscato, P, Savarese, M, Cinnante, C, Walter, MC, Abicht, A, Bulst, S, Corti, S, Moggio, M, Bresolin, N, Nigro, V & Comi, GP 2018, 'A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature', Neuromuscular Disorders, vol. 28, nr. 6, s. 532-537. https://doi.org/10.1016/j.nmd.2018.04.006

TY - JOUR

T1 - A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

AU - Brusa, Roberta

AU - Magri, Francesca

AU - Papadimitriou, Dimitra

AU - Govoni, Alessandra

AU - Del Bo, Roberto

AU - Ciscato, Patrizia

AU - Savarese, Marco

AU - Cinnante, Claudia

AU - Walter, Maggie C.

AU - Abicht, Angela

AU - Bulst, Stefanie

AU - Corti, Stefania

AU - Moggio, Maurizio

AU - Bresolin, Nereo

AU - Nigro, Vincenzo

AU - Comi, Giacomo Pietro

PY - 2018/6

Y1 - 2018/6

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

KW - Limb Girdle Muscular Dystrophy 2G

KW - Telethonin

KW - TCAP gene

KW - founder effect

KW - DIAGNOSIS

KW - Limb girdle muscular dystrophy 2G

KW - TELETHONIN

KW - Founder effect

KW - SKELETAL-MUSCLE

KW - SARCOMERIC PROTEIN

KW - TCAP

KW - LGMD2G

KW - MUTATIONS

U2 - 10.1016/j.nmd.2018.04.006

DO - 10.1016/j.nmd.2018.04.006

M3 - Review Article

SN - 0960-8966

VL - 28

SP - 532

EP - 537

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -