Extensive morphological and immunohistochemical characterization in myotubular myopathy
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چکیده
منابع مشابه
Extensive morphological and immunohistochemical characterization in myotubular myopathy
The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM 1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant number of small muscle fibers with centralized nuclei and type 1 fiber predominance) are usuall...
متن کاملCentronuclear (myotubular) myopathy
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidemiological data for other forms are not currently available.The clinical picture is highly variable. The X-linked form usually gives...
متن کاملX-linked myotubular myopathy
X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...
متن کاملA Case Study: Myotubular Myopathy
............................................................................................................... 3 Abbreviations ........................................................................................................ 3 Introduction ........................................................................................................... 3 Discussion ...............................
متن کاملX-linked myotubular myopathy and chylothorax.
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequent...
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ژورنال
عنوان ژورنال: Brain and Behavior
سال: 2013
ISSN: 2162-3279
DOI: 10.1002/brb3.147