Centronuclear (myotubular) myopathy

被引：0
作者：
Heinz Jungbluth
Carina Wallgren-Pettersson
Jocelyn Laporte
机构：
[1] Evelina Children's Hospital,Department of Paediatric Neurology, Neuromuscular Service
[2] King's College,Clinical Neuroscience Division
[3] University of Helsinki,Department of Medical Genetics
[4] The Folkhälsan Department of Medical Genetics,Department of Neurobiology and Genetics
[5] IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),undefined
[6] Inserm,undefined
[7] CNRS,undefined
[8] Université Louis Pasteur,undefined
[9] Collège de France,undefined
来源：
Orphanet Journal of Rare Diseases | / 3卷
关键词：
Myopathy; Malignant Hyperthermia; Congenital Myopathy; Nemaline Myopathy; Central Core Disease;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
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