A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

被引：3
|
作者：
Valilou, Saeed Farajzadeh [1 ,2 ,3 ]
Hagh, Javad Karimzad [1 ,2 ,4 ]
Asl, Mohammad Salimi [1 ,2 ]
Rad, Isa Abdi [5 ]
Edizadeh, Masoud [6 ]
Pooladi, Arash [7 ,8 ]
机构：
[1] Sarem Womens Hosp, Dept Med Genet, Tehran, Iran
[2] Sarem Womens Hosp, Sarem Cell Res Ctr SCRC, Tehran, Iran
[3] Universal Sci Educ & Res Network USERN, Med Genet Network MeGeNe, Tehran, Iran
[4] Cuypers & Cuypers Fertil Ctr Heinsberger Hofe, IVF Ctr, Heinsberg, Germany
[5] Urmia Univ Med Sci, Sch Med, Dept Med Genet, Orumiyeh, Iran
[6] Lorestan Univ Med Sci, Sch Med, Biotechnol Dept, Khorramabad, Lorestan, Iran
[7] Kurdistan Univ Med Sci, Canc & Immunol Res Ctr, Res Inst Hlth Dev, Sanandaj, Iran
[8] Kurdistan Univ Med Sci, Fac Med, Dept Med Genet, Sanandaj, Iran
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 08期
关键词：
ataxia; laminopathy; LMNB2; progressive myoclonus epilepsies; whole-exome sequencing; NUCLEAR LAMINS; GENOME; PROLIFERATION; ORGANIZATION; CELLS; B1; B2;
D O I：
10.1002/ccr3.4520
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
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页数：7
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