Heterozygous pathogenic mutation in the GBE gene in a non-Jewish patient with adult polyglucosan body disease

被引：0
|
作者：
Massa, Roberto
Bruno, Claudio
Martorana, Alessandro
Terracciano, Chiara
De Stefano, Nicola
Cassandrini, Denise
van Diggelen, Otto P.
Bernardi, Giorgio
Federico, Antonio
机构：
[1] Univ Roma Tor Vergata, Dipartimento Neurosci, Rome, Italy
[2] Univ Genoa, Dipartimento Pediat, Genoa, Italy
[3] Ist Giannina Gaslini, Dipartimento Neurosci & Riabilitaz, I-16148 Genoa, Italy
[4] Univ Siena, Ist Sci Neurol, Unita Operat Malattie Neurometab, I-53100 Siena, Italy
[5] Erasmus Med Ctr, Dept Clin Genet, Rotterdam, Netherlands
来源：
NEUROMUSCULAR DISORDERS | 2006年 / 16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：
引用
收藏
页码：S69 / S69
页数：1
相关论文
共 50 条
  • [21] One Gene, Two Clinical Profiles: Novel GBE1 Mutations in GSD Type IV and Adult Polyglucosan Body Disease
    Pagliarani, Serena
    Marchesi, Chiara
    Lamperti, Costanza
    Lucchiari, Sabrina
    Morandi, Lucia
    Salsano, Ettore
    Savoiardo, Mario
    Bordoni, Andreina
    Moggio, Maurizio
    Comi, Giacomo P.
    Pareyson, Davide
    NEUROLOGY, 2009, 72 (11) : A22 - A22
  • [22] TAY-SACHS DISEASE IN A NON-JEWISH PATIENT - A REPORT
    GIUGLIANI, R
    DACOSTA, JC
    BUCHALTER, MS
    WANNMACHER, C
    REVISTA BRASILEIRA DE GENETICA, 1984, 7 (01): : 183 - 187
  • [23] Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease
    Sagnelli, A.
    Savoiardo, M.
    Marchesi, C.
    Morandi, L.
    Mora, M.
    Morbin, M.
    Farina, L.
    Mazzeo, A.
    Toscano, A.
    Pagliarani, S.
    Lucchiari, S.
    Comi, G. P.
    Salsano, E.
    Pareyson, D.
    NEUROMUSCULAR DISORDERS, 2014, 24 (03) : 272 - 276
  • [24] Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China
    Chen, Yikun
    Shi, Yan
    Gao, Yuan
    Hu, Yan
    Zhou, Linying
    Hong, Jingmei
    Gan, Shirui
    Lin, Xiang
    Chen, Wanjin
    Xu, Guorong
    He, Jin
    GENES & DISEASES, 2024, 11 (05)
  • [25] The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients
    Elpeleg, ON
    Shaag, A
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) : 531 - 534
  • [26] Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
    Erik A Sistermans
    René FM de Coo
    Hetty M van Beerendonk
    Bwee Tien Poll-The
    Wim J Kleijer
    Bernard A van Oost
    European Journal of Human Genetics, 2000, 8 : 557 - 560
  • [27] Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
    Sistermans, EA
    de Coo, RFM
    van Beerendonk, HM
    Poll-The, BT
    Kleijer, WJ
    van Oost, BA
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (07) : 557 - 560
  • [28] Phenotypic heterogeneity of GBE1 mutations: congenital glycogen storage disease type IV and adult polyglucosan body disease
    Marchesi, C.
    Pagliariani, S.
    Lucchiari, S.
    Morandi, L.
    Salsano, E.
    Savoiardo, M.
    Bordoni, A.
    Moggio, M.
    Pareyson, D.
    Comi, G. P.
    JOURNAL OF NEUROLOGY, 2009, 256 : S157 - S158
  • [29] Childhood Presentation of "Adult" Polyglucosan Body Disease: Normal GBE1 Sequence with No Glycogen Branching Enzyme Activity
    Bathgate, Deborah
    Wigley, Ralph
    Gorman, Grainne
    Horvath, Rita
    Chinnery, Patrick F.
    ANNALS OF NEUROLOGY, 2013, 73 (02) : 317 - 318
  • [30] TAY-SACHS DISEASE - HIGH GENE FREQUENCY IN A NON-JEWISH POPULATION
    KELLY, TE
    CHASE, GA
    KABACK, MM
    KUMOR, K
    MCKUSICK, VA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1975, 27 (03) : 287 - 291
12345