Congenital myopathies - a comprehensive update of recent advancements

被引：24
|
作者：
Sharma, M. C. [1 ]
Jain, D. [2 ]
Sarkar, C. [1 ]
Goebel, H. H. [3 ]
机构：
[1] All India Inst Med Sci, Dept Pathol, New Delhi 110029, India
[2] Maulana Azad Med Coll, Dept Pathol, New Delhi, India
[3] Johannes Gutenberg Univ Mainz, Med Ctr, Dept Neuropathol, Mainz, Germany
来源：
ACTA NEUROLOGICA SCANDINAVICA | 2009年 / 119卷 / 05期
关键词：
congenital myopathy; clinicopathological; enzyme histochemistry; muscle biopsy; ultra structure; CENTRAL-CORE DISEASE; RYANODINE RECEPTOR GENE; DESMIN-RELATED MYOPATHY; LINKED MYOTUBULAR MYOPATHY; MULTI-MINICORE DISEASE; MALIGNANT HYPERTHERMIA FAMILIES; FIBER-TYPE DISPROPORTION; BODY-LIKE INCLUSIONS; NEMALINE MYOPATHY; CENTRONUCLEAR MYOPATHY;
D O I：
10.1111/j.1600-0404.2008.01126.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.
引用
收藏
页码：281 / 292
页数：12
相关论文
共 50 条
  • [1] Congenital Myopathies: An Update
    Jessica R. Nance
    James J. Dowling
    Elizabeth M. Gibbs
    Carsten G. Bönnemann
    Current Neurology and Neuroscience Reports, 2012, 12 : 165 - 174
  • [2] Congenital Myopathies: An Update
    Nance, Jessica R.
    Dowling, James J.
    Gibbs, Elizabeth M.
    Boennemann, Carsten G.
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2012, 12 (02) : 165 - 174
  • [3] Congenital myopathies: an update
    Claeys, Kristl G.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2020, 62 (03): : 297 - +
  • [4] Update on the Genetics of Congenital Myopathies
    Pelin, Katarina
    Wallgren-Pettersson, Carina
    SEMINARS IN PEDIATRIC NEUROLOGY, 2019, 29 : 12 - 22
  • [5] Update on Congenital Myopathies in Adulthood
    Papadimas, George Konstantinos
    Xirou, Sophia
    Kararizou, Evangelia
    Papadopoulos, Constantinos
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (10)
  • [6] Update on congenital myopathies and congenital muscular dystrophies
    Topaloglu, Haluk
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429
  • [7] Protein aggregate myopathies, a subgroup in congenital myopathies - an update and review
    Goebel, HH
    Goldfarb, L
    Laing, N
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 616 - 616
  • [8] Update on congenital muscular dystrophies and congenital myopathies: Oral presentations
    Nicot, A.
    Toussaint, A.
    Tosch, V.
    Kretz, C.
    Wallgren-Pettersson, C.
    Iwarsson, E.
    Kingston, H.
    Garnier, J.
    Biancalana, V.
    Mandel, J.
    Laporte, J.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 833 - 833
  • [9] Update on congenital muscular dystrophies and congenital myopathies: Invited lectures
    Campbell, K. P.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 831 - 832
  • [10] Advancements in airway stents: a comprehensive update
    Aravena, Carlos
    Gildea, Thomas R.
    CURRENT OPINION IN PULMONARY MEDICINE, 2024, 30 (01) : 75 - 83
12345