Novel <scp>PHKA1</scp> mutation in glycogen storage disease type <scp>IXD</scp> with typical myotonic discharges-Reference-Cited by-同舟云学术

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Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges

Published:2022-08-11 Issue:11 Volume:28 Page:1895-1897
ISSN:1755-5930
Container-title:CNS Neuroscience & Therapeutics
language:en
Short-container-title:CNS Neurosci Ther

Author:

Wang Cong‐Cong¹²³^ORCID,Yang Bing¹²³,Liu Ying¹²³,Li Xiao‐Li¹²³,Liu Bin¹²³^ORCID,Duan Rui‐Sheng¹²³^ORCID

Affiliation:

1. Department of Neurology The First Affliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital Jinan China

2. Shandong Institute of Neuroimmunology Jinan China

3. Shandong Key Laboratory for Rheumatic Disease and Translational Medicine Jinan China

Publisher

Wiley

Subject

Pharmacology (medical),Physiology (medical),Psychiatry and Mental health,Pharmacology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cns.13939

Reference5 articles.

1. Glycogen storage disease type IX: High variability in clinical phenotype

2. Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease?

3. Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

4. A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency

5. Core Clinical Phenotypes in Myotonic Dystrophies

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