Distal Myopathies

被引:16
|
作者
Dimachkie, Mazen M. [1 ]
Barohn, Richard J. [2 ]
机构
[1] Univ Kansas Med Ctr, Neurophysiol Div, Neuromuscular Sect, Kansas City, KS 66160 USA
[2] Univ Kansas Med Ctr, Dept Neurol, Kansas City, KS 66160 USA
关键词
Distal myopathy; Welander myopathy; Myoshi myopathy; Nonaka myopathy; Laing myopathy; Markesbery-Griggs myopathy; Udd distal myopathy; Myofibrillar myopathy; INCLUSION-BODY MYOPATHY; TIBIAL MUSCULAR-DYSTROPHY; RIMMED VACUOLE FORMATION; DESMIN-RELATED MYOPATHY; SELENOPROTEIN-N GENE; EARLY ADULT-ONSET; MYOFIBRILLAR MYOPATHY; MIYOSHI MYOPATHY; SKELETAL-MUSCLE; FILAMENTOUS INCLUSIONS;
D O I
10.1016/j.ncl.2014.04.004
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize are also considered, because they show prominent distal limb weakness.
引用
收藏
页码:817 / +
页数:27
相关论文
共 50 条
  • [41] FAMILY INVESTIGATIONS IN LATE ONSET DISTAL MYOPATHIES - LONG-TERM OBSERVATIONS AND EARLY DIAGNOSIS
    BACHMANN, H
    WAGNER, A
    VONROHDEN, L
    KRAUSE, T
    STEINBICKER, V
    KMIETZYK, HJ
    ZEITSCHRIFT FUR KLINISCHE MEDIZIN-ZKM, 1988, 43 (06): : 481 - 484
  • [42] Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies
    Muelas, Nuria
    Carretero-Vilarroig, Lidon
    Marti, Pilar
    Azorin, Inmaculada
    Frasquet, Marina
    Poyatos-Garcia, Javier
    Portela, Sofia
    Martinez-Vicente, Laura
    Argente-Escrig, Herminia
    Sivera, Rafael
    Vazquez-Costa, Juan F.
    Tarrega, Maria
    Mas-Estelles, Fernando
    Vilchez, Roger
    Bataller, Luis
    Aller, Elena
    Diago, Lujan
    Fores-Toribio, Lorena
    Sevilla, Teresa
    Vilchez, Juan J.
    JOURNAL OF NEUROLOGY, 2025, 272 (01)
  • [43] Comparative analysis of clinic status, pathology and muscle MRI: 16 cases of distal myopathies/muscular dystrophies
    Hu, J.
    Zhao, Z.
    NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 666 - 667
  • [44] Genetics of the nemaline myopathies and the myotubular myopathies
    Wallgren-Pettersson, C
    NEUROMUSCULAR DISORDERS, 1998, 8 (06) : 401 - 404
  • [45] MYOPATHIES
    GLASBERG, MR
    NEUROSURGERY, 1979, 5 (06) : 747 - 758
  • [46] MYOPATHIES
    BAJUSZ, E
    HOMBURGER, F
    SCIENCE, 1966, 152 (3725) : 1112 - +
  • [47] Myopathies
    Reimers, C. D.
    AKTUELLE RHEUMATOLOGIE, 2009, 34 (06) : 333 - 334
  • [48] MYOPATHIES
    GREENSPAN, L
    MODERN TREATMENT, 1968, 5 (05): : 1036 - +
  • [49] The myopathies
    Younger, DS
    MEDICAL CLINICS OF NORTH AMERICA, 2003, 87 (04) : 899 - +
  • [50] MYOPATHIES
    不详
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1949, 139 (04): : 271 - 271