Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1

被引：1
|
作者：
Ghaoui, Roula [1 ,2 ,3 ]
Curtis, Samuel [3 ]
Kassahn, Karin S. S. [2 ,3 ]
机构：
[1] Royal Adelaide Hosp, Dept Neurol, Adelaide, SA 5000, Australia
[2] Univ Adelaide, Adelaide Med Sch, Adelaide, SA, Australia
[3] SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA, Australia
来源：
JAMA NEUROLOGY | 2023年 / 80卷 / 08期
关键词：
D O I：
10.1001/jamaneurol.2023.1286
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
This case report describes segmental uniparental isodisomy causing an "inside-to-outside" limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
引用
收藏
页码：868 / 869
页数：2
相关论文
共 40 条
  • [1] Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES mutation
    Beecher, Grayson
    Tang, Connie
    Liewluck, Teerin
    NEUROLOGY, 2021, 96 (15)
  • [2] Limb-girdle muscular dystrophy due to a novel homozygous ISPD gene mutation disclosed by whole exome sequencing
    Mastorodemos, V.
    Vogiatzi, E.
    Latsoudis, H.
    Vorgia, P.
    Amoiridis, G.
    Zaganas, I.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 : E339 - E339
  • [3] Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)
    Wu, Jianbo
    Hunt, Samuel D.
    Matthias, Nadine
    Servian-Morilla, Emilia
    Lo, Jonathan
    Jafar-Nejad, Hamed
    Paradas, Carmen
    Darabi, Radbod
    STEM CELL RESEARCH, 2017, 24 : 102 - 105
  • [4] Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy
    Peddareddygari, Leema Reddy
    Oberoi, Kinsi
    Grewal, Raji P.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (10)
  • [5] HOMOZYGOUS NONSENSE MUTATION IN SGCA IS A COMMON CAUSE OF LIMB-GIRDLE MUSCULAR DYSTROPHY IN ASSIUT, EGYPT
    Reddy, Hemakumar M.
    Hamed, Sherifa A.
    Lek, Monkol
    Mitsuhashi, Satomi
    Estrella, Elicia
    Jones, Michael D.
    Mahoney, Lane J.
    Duncan, Anna R.
    Cho, Kyung-Ah
    Macarthur, Daniel G.
    Kunkel, Louis M.
    Kang, Peter B.
    MUSCLE & NERVE, 2016, 54 (04) : 690 - 695
  • [6] How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3
    Verebi, Camille
    Caumes, Roseline
    Chantot-Bastaraud, Sandra
    Deburgrave, Nathalie
    Orhant, Lucie
    Vaucouleur, Nicolas
    Cuisset, Laurence
    Bienvenu, Thierry
    Leturcq, France
    Nectoux, Juliette
    NEUROMUSCULAR DISORDERS, 2023, 33 (05) : 367 - 370
  • [7] Limb-Girdle Muscular Dystrophy Type 2 Caused by a Novel Homozygous Mutation in DYSF in a Consanguineous Family
    He, Zhen
    Dai, Sheng-Ming
    Chen, Zhiyong
    INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2025, 28 (03)
  • [8] Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
    Khan, Amjad
    Wang, Rongrong
    Han, Shirui
    Umair, Muhammad
    Abbas, Safdar
    Khan, Muhammad Ismail
    Alshabeeb, Mohammad A.
    Alfadhel, Majid
    Zhang, Xue
    BMC MEDICAL GENETICS, 2019, 20 (01)
  • [9] Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18
    Hadouiri, Nawale
    Thomas, Quentin
    Darmency, Veronique
    Dulieu, Veronique
    De Rougemont, Marie-Gabrielle Mourot
    Bruel, Ange-Line
    Duffourd, Yannis
    Lecoquierre, Francois
    Colomb, Benoit
    Perez-Martin, Stephanie
    Ornetti, Paul
    Blanchard, Olivier
    Sorlin, Arthur
    Philippe, Christophe
    Faivre, Laurence
    Vitobello, Antonio
    Thauvin-Robinet, Christel
    CLINICAL GENETICS, 2021, 100 (05) : 643 - 644
  • [10] A Novel Homozygous TRIM32 Mutation in a Non-Hutterite Patient with Limb-Girdle Muscular Dystrophy
    Paul, Pritikanta
    Milone, Margherita
    Tracy, Jennifer
    Liewluck, Teerin
    NEUROLOGY, 2020, 94 (15)
1234