Clinical spectrum of proximal myotonic myopathy (PROMM) syndrome

被引：0
|
作者：
Meola, G
Sansone, V
机构：
[1] Univ Milan, Div Neurol 1, Milan, Italy
[2] San Donato Hosp, Milan, Italy
来源：
BASIC AND APPLIED MYOLOGY | 1997年 / 7卷 / 05期
关键词：
proximal myotonic myopathy; myotonic dystrophy; neuromuscular disorders; myopathy;
D O I：
暂无
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
We studied 25 patients with proximal myotonic myopathy (PROMM) from 3 unrelated kindreds and present data on the clinical spectrum of this syndrome. Our data show that phenotypic expression and degree of multisystem involvement may vary widely between and within kindreds. In conclusion our results suggest clinical and genetic heterogeneity of PROMM syndromes.
引用
收藏
页码：317 / 320
页数：4
相关论文
共 50 条
  • [41] MYOTONIC DYSTROPHY: CLINICAL AND MOLECULAR SPECTRUM IN KWA ZULU NATAL, SOUTH AFRICA
    Ayesha, Motala
    Alfred, Bill Pierre Louise
    Renu, Saxena
    Kumari, Haliwirth Pillay
    AFRICAN JOURNAL OF NEUROLOGICAL SCIENCES, 2009, 28 (02): : 3 - 10
  • [42] Collagen VI-related myopathy: Expanding the clinical and genetic spectrum
    Kim, Soo Yeon
    Kim, Woo Joong
    Kim, Hyuna
    Choi, Sun Ah
    Lee, Jin Sook
    Cho, Anna
    Jang, Se Song
    Lim, Byung Chan
    Kim, Ki Joong
    Kim, Jong-Il
    Hahn, Si Houn
    Chae, Jong-Hee
    MUSCLE & NERVE, 2018, 58 (03) : 381 - 388
  • [43] p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
    Andrea Rigamonti
    Vittorio Mantero
    Lorenzo Peverelli
    Serena Pagliarani
    Sabrina Lucchiari
    Giacomo Comi
    Sara Gibertini
    Andrea Salmaggi
    Neurological Sciences, 2021, 42 : 5359 - 5363
  • [44] p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
    Rigamonti, Andrea
    Mantero, Vittorio
    Peverelli, Lorenzo
    Pagliarani, Serena
    Lucchiari, Sabrina
    Comi, Giacomo
    Gibertini, Sara
    Salmaggi, Andrea
    NEUROLOGICAL SCIENCES, 2021, 42 (12) : 5359 - 5363
  • [45] Proximal myotonic dystrophy mimicking progressive muscular atrophy
    Rotondo, G
    Sansone, V
    Cardani, R
    Mancinelli, E
    Krahe, R
    Stangalini, D
    Meola, G
    EUROPEAN JOURNAL OF NEUROLOGY, 2005, 12 (02) : 160 - 161
  • [46] Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC
    van den Bogaart, Fleur J. A.
    Claeys, Kristl G.
    Kley, Rudolf A.
    Kusters, Benno
    Schrading, Simone
    Kamsteeg, Erik J.
    Voeunans, Nicol C.
    NEUROMUSCULAR DISORDERS, 2017, 27 (01) : 73 - 77
  • [47] Steakhouse Syndrome in Myotonic Dystrophy
    Ogasawara, Nobuhiko
    Sato, Kenichiro
    Tsutsumiuchi, Michiko
    Kanzaki, Mami
    Uesaka, Yoshikazu
    INTERNAL MEDICINE, 2017, 56 (23) : 3179 - 3181
  • [48] VareniclineFirst report of proximal myopathy: case report
    Reactions Weekly, 2009, 1268 (1) : 30 - 30
  • [49] The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia
    Finsterer, Josef
    Mehri, Sounira
    NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, 2024, 61 (04): : 382 - 383
  • [50] Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
    Iruzubieta, Pablo
    Verdu-Diaz, Jose
    Topf, Ana
    Luce, Leonela
    Claeys, Kristl G.
    De Ridder, Willem
    Gonzalez-Quereda, Lidia
    de Fuenmayor-fernandez de la Hoz, Carlos Pablo
    Poza, Juan Jose
    Zulaica, Miren
    de Jonghe, Peter
    Duff, Jennifer
    Mroczek, Magdalena
    Martin-Jimenez, Paloma
    Hernandez-Lain, Aurelio
    Dominguez-Gonzalez, Cristina
    Baets, Jonathan
    Gallano, Pia
    Diaz-Manera, Jordi
    Straub, Volker
    de Munain, Adolfo Lopez
    Fernandez-Torron, Roberto
    JOURNAL OF NEUROLOGY, 2025, 272 (02)
12345