Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Mridul Johari; Ana Topf; Chiara Folland; Jennifer Duff; Lein Dofash; Pilar Marti; Thomas Robertson; Juan Vilchez; Anita Cairns; Elizabeth Harris; Chiara Marini-Bettolo; Khalid Hundallah; Amal M Alhashem; Mohammed Al-Owain; Reza Maroofian; Gianina Ravenscroft; Volker Straub

doi:10.1136/jmg-2024-109970

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Mridul Johari
, Ana Topf
, Chiara Folland
, Jennifer Duff
, Lein Dofash
, Pilar Marti
, Thomas Robertson
, Juan Vilchez
, Anita Cairns
, Elizabeth Harris
, Chiara Marini-Bettolo
, Khalid Hundallah
, Amal M Alhashem
, Mohammed Al-Owain
, Reza Maroofian
, Gianina Ravenscroft
, Volker Straub

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Medical Genetics
Volym	61
Nummer	10
Sidor (från-till)	992–998
Antal sidor	7
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmg-2024-109970
Status	Publicerad - okt. 2024
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1136/jmg-2024-109970

992.fullSlutlig publicerad version, 10,4 MBLicens: CC BY

Citera det här

Johari, M., Topf, A., Folland, C., Duff, J., Dofash, L., Marti, P., Robertson, T., Vilchez, J., Cairns, A., Harris, E., Marini-Bettolo, C., Hundallah, K., Alhashem, A. M., Al-Owain, M., Maroofian, R., Ravenscroft, G., & Straub, V. (2024). Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. Journal of Medical Genetics, 61(10), 992–998. https://doi.org/10.1136/jmg-2024-109970

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title = "Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Mridul Johari and Ana Topf and Chiara Folland and Jennifer Duff and Lein Dofash and Pilar Marti and Thomas Robertson and Juan Vilchez and Anita Cairns and Elizabeth Harris and Chiara Marini-Bettolo and Khalid Hundallah and Alhashem, \{Amal M\} and Mohammed Al-Owain and Reza Maroofian and Gianina Ravenscroft and Volker Straub",

year = "2024",

month = oct,

doi = "10.1136/jmg-2024-109970",

language = "English",

volume = "61",

pages = "992–998",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

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Johari, M, Topf, A, Folland, C, Duff, J, Dofash, L, Marti, P, Robertson, T, Vilchez, J, Cairns, A, Harris, E, Marini-Bettolo, C, Hundallah, K, Alhashem, AM, Al-Owain, M, Maroofian, R, Ravenscroft, G & Straub, V 2024, 'Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement', Journal of Medical Genetics, vol. 61, nr. 10, s. 992–998. https://doi.org/10.1136/jmg-2024-109970

TY - JOUR

T1 - Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

AU - Johari, Mridul

AU - Topf, Ana

AU - Folland, Chiara

AU - Duff, Jennifer

AU - Dofash, Lein

AU - Marti, Pilar

AU - Robertson, Thomas

AU - Vilchez, Juan

AU - Cairns, Anita

AU - Harris, Elizabeth

AU - Marini-Bettolo, Chiara

AU - Hundallah, Khalid

AU - Alhashem, Amal M

AU - Al-Owain, Mohammed

AU - Maroofian, Reza

AU - Ravenscroft, Gianina

AU - Straub, Volker

PY - 2024/10

Y1 - 2024/10

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1136/jmg-2024-109970

DO - 10.1136/jmg-2024-109970

M3 - Article

SN - 0022-2593

VL - 61

SP - 992

EP - 998

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 10

ER -