A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, Liwen Xu, Monkol Lek, Daniel G. MacArthur, Olivera Casar-Borota, Maria Williams, Volker Straub, Carina Wallgren-Pettersson

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftNeuromuscular Disorders
Volym28
Utgåva7
Sidor (från-till)614-618
Antal sidor5
ISSN0960-8966
DOI
StatusPublicerad - jul 2018
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3112 Neurovetenskaper
  • 3124 Neurologi och psykiatri

Citera det här

Strang-Karlsson, Sonja ; Johnson, Katherine ; Töpf, Ana ; Xu, Liwen ; Lek, Monkol ; MacArthur, Daniel G. ; Casar-Borota, Olivera ; Williams, Maria ; Straub, Volker ; Wallgren-Pettersson, Carina. / A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. I: Neuromuscular Disorders. 2018 ; Vol. 28, Nr. 7. s. 614-618.
@article{51fc292ca4784f45beb7a56b560833bd,
title = "A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair",
keywords = "Protein-O-mannosyl kinase, POMK, Dystroglycanopathy, Limb-girdle muscular dystrophy-dystroglycanopathy type 12 C, MDDGCI2, LGMD12C, Muscular dystrophy, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Sonja Strang-Karlsson and Katherine Johnson and Ana T{\"o}pf and Liwen Xu and Monkol Lek and MacArthur, {Daniel G.} and Olivera Casar-Borota and Maria Williams and Volker Straub and Carina Wallgren-Pettersson",
year = "2018",
month = "7",
doi = "10.1016/j.nmd.2018.04.012",
language = "English",
volume = "28",
pages = "614--618",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Scientific Publ. Co",
number = "7",

}

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. / Strang-Karlsson, Sonja; Johnson, Katherine; Töpf, Ana; Xu, Liwen; Lek, Monkol; MacArthur, Daniel G.; Casar-Borota, Olivera; Williams, Maria; Straub, Volker; Wallgren-Pettersson, Carina.

I: Neuromuscular Disorders, Vol. 28, Nr. 7, 07.2018, s. 614-618.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

AU - Strang-Karlsson, Sonja

AU - Johnson, Katherine

AU - Töpf, Ana

AU - Xu, Liwen

AU - Lek, Monkol

AU - MacArthur, Daniel G.

AU - Casar-Borota, Olivera

AU - Williams, Maria

AU - Straub, Volker

AU - Wallgren-Pettersson, Carina

PY - 2018/7

Y1 - 2018/7

KW - Protein-O-mannosyl kinase

KW - POMK

KW - Dystroglycanopathy

KW - Limb-girdle muscular dystrophy-dystroglycanopathy type 12 C

KW - MDDGCI2

KW - LGMD12C

KW - Muscular dystrophy

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.nmd.2018.04.012

DO - 10.1016/j.nmd.2018.04.012

M3 - Article

VL - 28

SP - 614

EP - 618

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 7

ER -