RECESSIVE CLCN1 MUTATION PRESENTING AS THOMSEN DISEASE

被引：4

作者：

Thomas, Judy ^{[1
]}

Tarleton, Jack ^{[2
]}

Baker, Steven K. ^{[1
]}

机构：

[1] McMaster Univ, Med Ctr, Dept Med Phys Med & Neurol, Neuromusc Dis Clin, Hamilton, ON L8N 3Z5, Canada

[2] Mission Hosp, Fullerton Genet Lab, Asheville, NC USA

来源：

MUSCLE & NERVE | 2008年 / 38卷 / 05期

关键词：

case report; myotonia congenita; myotonia; electromyography;

D O I：

10.1002/mus.21121

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This case report describes a young man referred for electrodiagnostic evaluation for hand stiffness and intermittent numbness. His needle electromyography revealed diffusely increased insertional and spontaneous motor activity in the form of myotonic discharges. Given the finding of symptomatic myotonia also in his mother, Thomsen myotonia was suspected. Investigations not only confirmed Thomsen myotonia, but also led to the identification of a previously reported heterozygous Becker mutation in both the proband and his mother.

引用

页码：1515 / 1517

页数：3

共 50 条

[1] Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Gurgel-Giannetti, Juliana
Senkevics, Adriano S.
Zilbersztajn-Gotlieb, Dinorah
Yamamoto, Lydia U.
Muniz, Viviane P.
Pavanello, Rita C. M.
Oliveira, Acary B.
Zatz, Mayana
Vainzof, Mariz
[J]. MUSCLE & NERVE, 2012, 45 (02) : 279 - 283
[2] A NOVEL CLCN1 MUTATION (G1652A) CAUSING A MILD PHENOTYPE OF THOMSEN DISEASE
Kumar, Kishore R.
Ng, Karl
Vandebona, Himesha
Davis, Mark R.
Sue, Carolyn M.
[J]. MUSCLE & NERVE, 2010, 41 (03) : 412 - 415
[3] A novel mutation of CLCN1(G276C) with variable phenotype of Thomsen disease in a Korean family
Suh, G.
Hong, J.
Shim, D.
Kim, D.
Choi, Y.
[J]. NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 629 - 629
[4] A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
Chakravarty, Kamalesh
Lal, Vivek
Ray, Sucharita
[J]. ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2021, 24 (04) : 605 - 606
[5] A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Miryounesi, Mohammad
Ghafouri-Fard, Soudeh
Fardaei, Majid
[J]. IRANIAN JOURNAL OF MEDICAL SCIENCES, 2016, 41 (05) : 456 - 458
[6] MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER
KOCH, MC
MEYERKLEIN, C
OTTO, M
RICKER, K
LORENZ, C
STEINMEYER, K
JENTSCH, RJ
[J]. CYTOGENETICS AND CELL GENETICS, 1995, 71 (01): : 30 - 30
[7] Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)
Ferese, R.
Albano, V
Falconi, M.
Iacovelli, F.
Campopiano, R.
Scala, S.
Griguoli, A. M.
Gaglione, A.
Giardina, E.
Zampatti, S.
Storto, M.
Fornai, F.
D'Alessio, C.
Novelli, G.
Gambardella, S.
[J]. ARCHIVES ITALIENNES DE BIOLOGIE, 2017, 155 (04): : 275 - 278
[8] A novel CLCN1 mutation:: P480T in a Japanese family with Thomsen's myotonia congenita
Sasaki, R
Ito, N
Shimamura, M
Murakami, T
Kuzuhara, S
Uchino, M
Uyama, E
[J]. MUSCLE & NERVE, 2001, 24 (03) : 357 - 363
[9] CLINICAL EVALUATION AND CELLULAR ELECTROPHYSIOLOGY OF A RECESSIVE CLCN1 PATIENT
Lucchiari, S.
Ulzi, G.
Magri, F.
Bucchia, M.
Corbetta, F.
Servida, M.
Moggio, M.
Comi, G. P.
Lecchi, M.
[J]. JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY, 2013, 64 (05): : 669 - 678
[10] Reduced Current Density and Surface Expression of a CLCN1 Mutation Causing Dominant or Recessive Myotonia in Costa Rica
Fiore, Michele
Estevez, Raul
Gaitan-Penas, Hector
Ezpinoza, Mauricio
Vasquez, Melissa
Vindas, Rebeca
Pusch, Michael
Morales, Fernando
[J]. BIOPHYSICAL JOURNAL, 2014, 106 (02) : 147A - 147A

← 1 2 3 4 5 →