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
来源：
ANNALS OF NEUROLOGY | 2024年 / 96卷
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
  • [31] Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene
    Campos, Talyta
    Uchoa, Elza
    Santos, Victor
    Zatarin, Raffael
    Benicio, Rosenelle
    Gomes, Clayson
    da Cruz, Aparecido
    GENES, 2024, 15 (11)
  • [32] A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
    Conde-Rubio, Paula
    Garcia-Malinis, Ana Julia
    Salvador-Ruperez, Elvira
    Izquierdo alvarez, Silvia
    Gonzalez-Tarancon, Ricardo
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2023, 24 (01)
  • [33] A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report
    Kaimori, Jun -Ya
    Matsuda, Jun
    Jan, Asif
    Kawano, Yuki
    Kawaoka, Takayuki
    Asahina, Yuta
    Doi, Yohei
    Oka, Tatsufumi
    Nagata, Miho
    Ishihara, Yasuki
    Miyashita, Yohei
    Asano, Toshihiro
    Sakaguchi, Yusuke
    Isaka, Yoshitaka
    INTERNAL MEDICINE, 2025,
  • [34] High-Grade Myelodysplastic Syndrome With a Rare Variant t(3;8)(q26.2;q24.1) Translocation Involving MECOM (EVI1) and MYC Gene Rearrangement
    Slonim, Liron Barnea
    Donovan, Virginia
    Subramaniyam, Shivakumar
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2018, 150 : S104 - S105
  • [35] A Rare Case of Familiar Hypertension Presenting with Hypertensive Encephalopathy in an Elderly Patient: A Diagnostic Dilemma: A Presentation of Liddle's Syndrome due to Novel Mutation in SCNN1G Gene
    Suman, Sethi
    Sudhir, Mehta
    Nitin, Sethi
    Vikas, Makkar
    Simran, Kaur
    Preet, Sohal M.
    SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION, 2021, 32 (04) : 1163 - 1165
  • [36] c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome
    Porto, Milena Barbosa
    Castro, Geovanna da Mata e
    Pereira, Samara Socorro Silva
    Uchoa, Elza Maria Goncalves Santos
    Zatarin, Raffael
    Minasi, Lysa Bernardes
    da Cruz, Aparecido D.
    INTERNATIONAL MEDICAL CASE REPORTS JOURNAL, 2024, 17 : 63 - 70
  • [37] A rare case of pathogenic variant of c.784G>T, p.(Asp262Tyr) in exon 9 of the STXBP1 gene with clinical manifestation of developmental and epileptic encephalopathy 4
    Nonkulovski, D.
    Sofijanova, A.
    Muaremoska, L. Kanzoska
    Ademi, L.
    Jordanova, O.
    EPILEPSIA, 2023, 64 : 561 - 561
  • [38] Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review
    Gambino, Giuseppe
    Catalano, Concetta
    Marangoni, Martina
    Geers, Caroline
    Moine, Alain Le
    Boon, Nathalie
    Smits, Guillaume
    Ghisdal, Lidia
    FRONTIERS IN MEDICINE, 2021, 8
  • [39] A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
    Poukoulidou, Thekla
    Maiter, Dominique
    Bertherat, Jerome
    Beauloye, Veronique
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (9-10): : 1005 - 1009
  • [40] Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
    Uddin, Mohammed Shahab
    Al Fulayyih, Saleh
    Fahad, Fatin
    Al Hatlani, Maher Mohammed
    AMERICAN JOURNAL OF CASE REPORTS, 2022, 23
1234