Case of Rare Pathogenic Variant Involving SGCE Gene (Myoclonic Dystonia 1 presenting as Huntington Disease (HD) Phenocopy Syndrome

被引:0
|
作者
Ahmed, Anwar [1 ]
Pagano, Jennifer [2 ]
Lotia, Mitesh [3 ]
机构
[1] Advent Hlth, Altamonte Springs, FL USA
[2] Advent Hlth Innovat, Orlando, FL USA
[3] Advent Hlth Neurosci Inst Innovat Tower, Movement Disorders, Orlando, FL USA
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
M2.158
引用
收藏
页码:S237 / S238
页数:2
相关论文
共 40 条
  • [21] Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria
    Doya, Leen Jamel
    Mohammad, Lava
    Omran, Razan
    Ibrahim, Alexander Ali
    Yousef, Nizar
    Ibrahim, Ali
    Houreih, Mohammad Adib
    BMC PEDIATRICS, 2021, 21 (01)
  • [22] Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria
    Leen Jamel Doya
    Lava Mohammad
    Razan Omran
    Alexander Ali Ibrahim
    Nizar Yousef
    Ali Ibrahim
    Mohammad Adib Houreih
    BMC Pediatrics, 21
  • [23] A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
    Palma, Carmen
    Patricia, Perez Mohand
    Lezana, Jose M.
    Cruz, Jaime
    Quesada, Juan F.
    Vila, Sara
    Alvarez-Mora, Isabel
    Arteche-Lopez, Ana
    Gomez-Manjon, Irene
    Sanchez, M. Teresa
    Gomez-Rodriguez, Maria Jose
    Sanchez, Jaime
    Moreno-Garcia, Marta
    JOURNAL OF PEDIATRIC GENETICS, 2023, 12 (03) : 254 - 257
  • [24] Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation
    Wu, Huan
    Wu, Long
    Zhang, Quan
    Zhang, Bao-fang
    FRONTIERS IN GENETICS, 2023, 14
  • [25] A Rare Case of Prolonged Survival of a Child Diagnosed With Childhood Interstitial Lung Disease (chILD) Associated With a Pathogenic Variant of Surfactant Protein B (sftb) Gene
    Park, J.
    Lee, M.
    Kim, K.
    Suh, D.
    Park, J.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2024, 209
  • [26] Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome
    Blanc, Albin
    Bonnet, Celine
    Wandzel, Marion
    Roth, Virginie
    Duffourd, Yannis
    Safraou, Hanna
    Leheup, Bruno
    Muller, Florence
    Colne, Julie
    Feillet, Francois
    Schmitt, Emmanuelle
    Castro, Matheus
    Savatt, Jullian
    Burcheri, Adriano
    Nemos, Christophe
    Philippe, Christophe
    Lambert, Laetitia
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (09)
  • [27] The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: A case report
    Ranawaka R.
    Sirisena N.D.
    Dayasiri K.C.
    Cogal A.G.
    Lieske J.C.
    Gamage M.P.
    Dissanayake V.H.W.
    BMC Research Notes, 10 (1)
  • [28] Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia
    Alhomayin, Lama Abdullah
    Alharbi, Abdullah Rashed
    Nadama, Ahmed Rufai
    Cal, Joseph Hope
    Paramasivam, Muthurajan
    AMERICAN JOURNAL OF CASE REPORTS, 2025, 26
  • [29] Functional Characterization of a Rare, Pathogenic Missense Variant Implicates FRAS1 as a Novel Gene for Risk of Progression to End-Stage Kidney Disease in Diabetes
    Chen, Tiehua
    Neeley, Matthew B.
    Lazaro-Guevara, Jose M.
    Pezzolesi, Melissa
    Simeone, Christopher A.
    Rodan, Aylin
    Holland, William L.
    Pezzolesi, Marcus G.
    DIABETES, 2023, 72
  • [30] A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
    Paula Conde-Rubio
    Ana Julia García-Malinis
    Elvira Salvador-Rupérez
    Silvia Izquierdo Álvarez
    Ricardo González-Tarancón
    Egyptian Journal of Medical Human Genetics, 24