Crural hypertrophy associated with centronuclear myopathy
نویسندگان
چکیده
منابع مشابه
Familial centronuclear myopathy associated with 'cardiomyopathy'.
Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.
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 کاملMyotonia in centronuclear myopathy.
Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.
متن کاملFamilial centronuclear myopathy.
The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the number of cases now reported with this constellation of physical signs and pathological changes in the muscles. A review of these patients suggests the existence of several different diseases causing this picture, though presumably the underlying biochemical defects are...
متن کاملAdult- Onset Centronuclear Myopathy.
Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form. We report a 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1979
ISSN: 0022-3050
DOI: 10.1136/jnnp.42.6.542