SET binding factor 1 (
            SBF1
            ) mutation causes Charcot-Marie-Tooth disease type 4B3

Khriezhanuo Nakhro; Jin-Mo Park; Young Bin Hong; Soo Hyun Nam; Bo Ram Yoon; Jeong Hyun Yoo; Heasoo Koo; Sung-Chul Jung; Hyung-Lae Kim; Ji Yon Kim; Kyoung-Gyu Choi; Byung-Ok Choi; Ki Wha Chung

doi:10.1212/wnl.0b013e31829a3421

journal article Jul 09, 2013

SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3

Khriezhanuo Nakhro Jin-Mo Park Young Bin Hong Soo Hyun Nam Bo Ram Yoon Jeong Hyun Yoo Heasoo Koo Sung-Chul Jung Hyung-Lae Kim

Ji Yon Kim Kyoung-Gyu Choi Byung-Ok Choi Ki Wha Chung

Neurology Vol. 81 No. 2 pp. 165-173 · Ovid Technologies (Wolters Kluwer Health)

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References

34

[1]

10.1038/75542

[2]

10.1093/hmg/ddg030

[3]

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

H. Azzedine, A. Bolino, T. Taïeb et al.

The American Journal of Human Genetics 10.1086/375034

[4]

10.1212/01.wnl.0000133211.40288.9a

[5]

10.1093/hmg/ddi400

[6]

10.1093/hmg/ddm257

[7]

10.1073/pnas.0800742105

[8]

10.1038/ng0696-175

[9]

MTM1 mutations in X-linked myotubular myopathy

Jocelyn Laporte, Val�rie Biancalana, Stephan M. Tanner et al.

Human Mutation 10.1002/(sici)1098-1004(200005)15:5<393::aid-humu1>3.0.co;2-r

[10]

10.1093/hmg/11.13.1569

[11]

10.1093/hmg/ddi473

[12]

10.1073/pnas.0910672106

[13]

10.1038/ng.499

[14]

10.1038/nrg3031

[15]

10.1002/ana.22235

[16]

10.1016/j.ajhg.2011.07.002

[17]

10.1016/j.ajhg.2012.05.007

[18]

10.1002/humu.22143

[19]

Lee SS Lee HJ Park JM et al.. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. JAMA Neurol Epub 2013 Mar 18. 10.1001/jamaneurol.2013.1250

[20]

10.1073/pnas.0431052100

[21]

10.1038/ng0498-331

[22]

10.1016/s1016-8478(23)07387-9

[23]

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

K. Tamura, D. Peterson, N. Peterson et al.

Molecular Biology and Evolution 10.1093/molbev/msr121

[24]

10.1212/wnl.50.4.1074

[25]

10.1212/01.wnl.0000156517.00615.a3

[26]

10.1093/hmg/ddg273

[27]

10.1093/hmg/7.11.1703

[28]

10.1074/jbc.m505159200

[29]

10.1111/j.1582-4934.2009.00967.x

[30]

10.1091/mbc.e12-05-0375

[31]

10.1111/j.1471-4159.2007.05103.x

[32]

10.1093/brain/awr184

[33]

10.1006/geno.1999.6028

[34]

10.1212/wnl.55.3.392

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Published: Jul 09, 2013
Vol/Issue: 81(2)
Pages: 165-173

Authors

K

Khriezhanuo Nakhro

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

J

Jin-Mo Park

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

Y

Young Bin Hong

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

S

Soo Hyun Nam

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

B

Bo Ram Yoon

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

J

Jeong Hyun Yoo

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

H

Heasoo Koo

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

S

Sung-Chul Jung

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

H

Hyung-Lae Kim

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

J

Ji Yon Kim

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

K

Kyoung-Gyu Choi

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

B

Byung-Ok Choi

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

K

Ki Wha Chung

From the Department of Biological Science (K.N., J.H.P., S.H.N., B.R.Y., K.W.C.), Kongju National University, Gongju; and Departments of Neurology (J.-M.P., Y.B.H., K.-G.C., B.-O.C.), Radiology (J.H.Y.), Pathology (H.K.), Biochemistry (S.-C.J., H.-L.K.), and Microbiology (J.Y.K.), Ewha Womans University School of Medicine, Seoul, Korea.

Cite This Article

Khriezhanuo Nakhro, Jin-Mo Park, Young Bin Hong, et al. (2013). SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology, 81(2), 165-173. https://doi.org/10.1212/wnl.0b013e31829a3421

SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3

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