Identification of de novoBSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy

2007 ◽  
Vol 36 (3) ◽  
pp. 384-386 ◽  
Author(s):  
Hyun-Jung Cho ◽  
Duk-Hyun Sung ◽  
Chang-Seok Ki
Keyword(s):  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Korean Family ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

2006 ◽  
Vol 16 (2) ◽  
pp. 122-125 ◽  
Author(s):  
Bart P.C. van de Warrenburg ◽  
Hans Scheffer ◽  
Jeroen J.J. van Eijk ◽  
Martina H.A. Versteeg ◽  
Hannie Kremer ◽  
...  
Keyword(s):  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome

2010 ◽  
Vol 296 (1-2) ◽  
pp. 107-109 ◽  
Author(s):  
V. Rakočević-Stojanović ◽  
V. Milić-Rašić ◽  
S. Perić ◽  
J. Baets ◽  
V. Timmerman ◽  
...  
Keyword(s):  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome ◽  
Type V

scholarly journals Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

2004 ◽  
Vol 36 (3) ◽  
pp. 271-276 ◽  
Author(s):  
Christian Windpassinger ◽  
Michaela Auer-Grumbach ◽  
Joy Irobi ◽  
Heema Patel ◽  
Erwin Petek ◽  
...  
Keyword(s):  
Motor Neuropathy ◽  
Missense Mutations ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome

scholarly journals Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Hai-Lin Dong ◽  
Jia-Qi Li ◽  
Gong-Lu Liu ◽  
Hao Yu ◽  
Zhi-Ying Wu
Keyword(s):  
Ex Vivo ◽  
Protein Solubility ◽  
Chinese Patients ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Causative Gene ◽  
Hereditary Motor ◽  
Functional Studies ◽  
Hereditary Motor Neuropathy

AbstractSorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and one known variant (c.757delG) within SORD in four Chinese dHMN families. Ex vivo cDNA polymerase chain reaction confirmed that c.908 + 1 G > C variant was associated with impaired splicing of the SORD transcript. In vitro cell functional studies showed that c.404 A > G variant resulted in aggregate formation of SORD and low protein solubility, confirming the pathogenicity of SORD variants. We have provided more evidence to establish SORD as a causative gene for dHMN.

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

2004 ◽  
Vol 9 (2) ◽  
pp. 122-123 ◽  
Author(s):  
ML Mostacciuolo ◽  
E Crestanello ◽  
F Boaretto ◽  
E Boscolo ◽  
M Liguori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Hereditary Motor Neuropathy

scholarly journals Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

2012 ◽  
Vol 91 (1) ◽  
pp. 139-145 ◽  
Author(s):  
Christian Beetz ◽  
Thomas R. Pieber ◽  
Nicole Hertel ◽  
Maria Schabhüttl ◽  
Carina Fischer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Type V

scholarly journals Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

2008 ◽  
Vol 40 (3) ◽  
pp. 304 ◽  
Author(s):  
Ki Wha Chung ◽  
Sang-Beom Kim ◽  
Sun Young Cho ◽  
Su Jin Hwang ◽  
Sun Wha Park ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Heat Shock Protein 27 ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Korean Patients ◽  
Hereditary Motor Neuropathy
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