PMC Articles for MedGen (Select 148293) - PMC

Result Filters

Links from MedGen

Items: 12

Select item 88558561.

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang

Channels (Austin) 2022; 16(1): 35–46. Published online 2022 Feb 16. doi: 10.1080/19336950.2022.2041292

PMCID:: PMC8855856

Abstract Article PDF–1.0M

Select item 67208352.

Association of Sjögren’s syndrome with myotonic dystrophy type 1

Elizabeth A Kitsis, Fabreena Napier, Viral Juthani, Howard L Geyer

BMJ Case Rep. 2019; 12(8): e229611. Published online 2019 Aug 28. doi: 10.1136/bcr-2019-229611

PMCID:: PMC6720835

Abstract Article PDF–137K

Select item 65607753.

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama

BMC Neurol. 2019; 19: 125. Published online 2019 Jun 12. doi: 10.1186/s12883-019-1360-0

PMCID:: PMC6560775

Abstract Article PDF–1.2M

Select item 10728264.

Benign familial disease with muscle mounding and rippling.

R J Burns, A H Bretag, P C Blumbergs, M G Harbord

J Neurol Neurosurg Psychiatry. 1994 Mar; 57(3): 344–347. doi: 10.1136/jnnp.57.3.344

PMCID:: PMC1072826

Summary Page Browse PDF–853K

Select item 108494505.

Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report

Jashpal Yadav, Ritesh Barnwal, Sujit Kumar Mandal, Bina Prajapati

Ann Med Surg (Lond) 2024 Feb; 86(2): 1191–1195. Published online 2024 Jan 3. doi: 10.1097/MS9.0000000000001673

PMCID:: PMC10849450

Abstract Article PDF–755K

Select item 108419536.

Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature

Hui Yi, Chen-Xiang Liu, Shu-Xin Ye, Yu-Lin Liu

World J Clin Cases. 2024 Jan 26; 12(3): 587–595. Published online 2024 Jan 26. doi: 10.12998/wjcc.v12.i3.587

PMCID:: PMC10841953

Abstract Article PDF–2.8M

Select item 107133677.

Idiopathic Inflammatory Myopathy with Delayed Finger Opening Resembling Grip Myotonia

Takamichi Kanbayashi, Shunsuke Kobayashi, Yuki Hatanaka, Jun Shimizu, Masahiro Sonoo

Intern Med. 2023 Nov 15; 62(22): 3397–3400. Published online 2023 Apr 7. doi: 10.2169/internalmedicine.1545-22

PMCID:: PMC10713367

Abstract Article PDF–3.6M

Select item 90365248.

Drug treatment for myotonia

Jeroen Trip, Gea G Drost, Baziel GM van Engelen, C G Faber, Cochrane Neuromuscular Group

Cochrane Database Syst Rev. 2006 Jan; 2006(1): CD004762. Published online 2006 Jan 25. doi: 10.1002/14651858.CD004762.pub2

PMCID:: PMC9036524

Abstract Article PDF–332K

Select item 89578219.

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu

Front Neurol. 2022; 13: 830707. Published online 2022 Mar 8. doi: 10.3389/fneur.2022.830707

PMCID:: PMC8957821

Abstract Article PDF–1.4M

Select item 664089410.

Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1

Shunsuke Koga, J Eric Ahlskog, Michael A DeTure, Matt Baker, Shanu F Roemer, Takuya Konno, Rosa Rademakers, Owen A Ross, Dennis W Dickson

J Neuropathol Exp Neurol. 2019 Aug; 78(8): 756–762. Published online 2019 May 24. doi: 10.1093/jnen/nlz048

PMCID:: PMC6640894

Abstract Article PDF–875K

Select item 613837411.

A trigger-happy soldier with bilateral ptosis and dysphagia

F.M.H. Ahmad, K.V.S. Hari Kumar

Biomed J. 2015 Dec; 38(6): 554–555. Published online 2016 Mar 10. doi: 10.1016/j.bj.2015.03.001

PMCID:: PMC6138374

Abstract Article PDF–406K

Select item 287100412.

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1 (LOE Classification)

E.L. Logigian, W.B. Martens, R.T. Moxley, IV, M.P. McDermott, N. Dilek, A.W. Wiegner, A.T. Pearson, C.A. Barbieri, C.L. Annis, C.A. Thornton, R.T. Moxley, III

Neurology. 2010 May 4; 74(18): 1441–1448. doi: 10.1212/WNL.0b013e3181dc1a3a

PMCID:: PMC2871004

Abstract Article PDF–818K

Supplemental Content

Filter your results:

All (12)
NIH grants (2)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 148293) (12)
PMC
Chromosome neighbors for GEO Profiles (Select 72044998) (20)
GEO Profiles
Assembly for Nucleotide (Select 2691730422) (1)
Assembly
SLC39A14 solute carrier family 39 member 14 [Homo sapiens]
SLC39A14 solute carrier family 39 member 14 [Homo sapiens]
Gene ID:23516

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

You are here: NCBI > Literature > PubMed Central (PMC)

Support Center

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: