Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

S. Cai; M. Gao; J. Xi; Z. Liu; D. Yue; H. Wu; H. Bi; J. Li; Z. Liang; C. Zhao; B. Udd; S. Luo; J. Lu

doi:10.1016/j.nmd.2019.06.005

Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

S. Cai, M. Gao, J. Xi, Z. Liu, D. Yue, H. Wu, H. Bi, J. Li, Z. Liang, C. Zhao, B. Udd, S. Luo, J. Lu

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

9 Citations (Scopus)

Original language	English
Pages (from-to)	628-633
Journal	NEUROMUSCULAR DISORDERS
Volume	29
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2019.06.005
Publication status	Published - 2019
Publication type	A1 Journal article-refereed

Keywords

Anoctaminopathy
Limb girdle muscular dystrophy
Muscle MRI
Mutation
Presymptomatic hyperCKemia

Publication forum classification

Publication forum level 1

Access to Document

10.1016/j.nmd.2019.06.005

Cite this

@article{a5bb71b9b3394a229b47f526a87d4690,

title = "Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy",

keywords = "Anoctaminopathy, Limb girdle muscular dystrophy, Muscle MRI, Mutation, Presymptomatic hyperCKemia, Anoctaminopathy, Limb girdle muscular dystrophy, Muscle MRI, Mutation, Presymptomatic hyperCKemia",

author = "S. Cai and M. Gao and J. Xi and Z. Liu and D. Yue and H. Wu and H. Bi and J. Li and Z. Liang and C. Zhao and B. Udd and S. Luo and J. Lu",

year = "2019",

doi = "10.1016/j.nmd.2019.06.005",

language = "English",

volume = "29",

pages = "628--633",

journal = "NEUROMUSCULAR DISORDERS",

issn = "0960-8966",

publisher = "Elsevier",

number = "8",

}

TY - JOUR

T1 - Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

AU - Cai, S.

AU - Gao, M.

AU - Xi, J.

AU - Liu, Z.

AU - Yue, D.

AU - Wu, H.

AU - Bi, H.

AU - Li, J.

AU - Liang, Z.

AU - Zhao, C.

AU - Udd, B.

AU - Luo, S.

AU - Lu, J.

PY - 2019

Y1 - 2019

KW - Anoctaminopathy

KW - Limb girdle muscular dystrophy

KW - Muscle MRI

KW - Mutation

KW - Presymptomatic hyperCKemia

KW - Anoctaminopathy

KW - Limb girdle muscular dystrophy

KW - Muscle MRI

KW - Mutation

KW - Presymptomatic hyperCKemia

U2 - 10.1016/j.nmd.2019.06.005

DO - 10.1016/j.nmd.2019.06.005

M3 - Article

SN - 0960-8966

VL - 29

SP - 628

EP - 633

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 8

ER -