Results 141 to 150 of about 25,797 (180)
Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]
Front PediatrSanghamitra S +8 more
europepmc +1 more source
X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]
J Neuromuscul DisPannia E +3 more
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
X-Linked Centronuclear Myopathy
American Journal of Perinatology, 2003We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth.
Hueng-Chuen Fan
exaly +3 more sources
Centronuclear ("Myotubular") Myopathy
Archives of Neurology, 1969IN 1966 Spiro and co-workers1reported a 12-year-old boy with slowly progressive weakness from infancy who had unusual muscle fibers with centrally placed nuclei. Histochemical alterations in the central portions of the muscle fibers were noted. Because of similarities between these muscle fibers and the myotubular stage of embryogenesis, the authors ...
T L, Munsat, L R, Thompson, R F, Coleman
openaire +2 more sources
Myotubular, centronuclear or peri-centronuclear myopathy?
Journal of the Neurological Sciences, 1969Abstract A female child who died at the age of 27 months from an intercurrent pulmonary infection secondary to severe generalised hypotonia, muscular atrophy and weakness, showed clinical and pathological features previously described in patients with myotubular or centronuclear myopathy. She was noted to have multiple extra-ocular palsies and facial
M J, Campbell, J J, Rebeiz, J N, Walton
openaire +2 more sources
A case of centronuclear myopathy
Zeitschrift f�r Neurologie, 1973The paper presents the clinical features and laboratory data of a 6-year-old boy with centronuclear myopathy. No familial susceptibility was disclosed. The clinical signs are displayed with a congenital foot deformity and with the child's beginning to walk further symptoms and signs appeared.
I, Lolova +3 more
openaire +2 more sources
Familial centronuclear myopathy
Acta Neurologica Scandinavica, 2009A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.
L, Pavone +3 more
openaire +2 more sources
Anasthesia in myotubular (centronuclear) myopathy
Anaesthesia, 2000A patient with a known history of myotubular myopathy presented for surgery for insertion of a tibial nail. Anasthesia was induced and maintained using an intravenous anasthetic technique. Neuromuscular function was assessed using mechanomyography, which showed a profound reduction in muscle contractility.
D, Breslin +3 more
openaire +2 more sources
Anaesthesia for a child with centronuclear myopathy
Pediatric Anesthesia, 1995SUMMARYCentronuclear myopathy (CNM) is an inherited condition involving most muscle fibres in all the body mass, first described in 1966, which has a varying spectrum of presentations. Until recently it had not been associated with an increased risk of malignant hyperpyrexia.
S R, Price, J, Currie
openaire +2 more sources
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy
Muscle & Nerve, 1999Expression of dystrophin, beta-spectrin, merosin, and alpha- and beta-sarcoglycans on the vacuolar membranes in some types of vacuolar myopathies has previously been reported. We studied expression of caveolin-3; alpha-, beta-, gamma-, and delta-sarcoglycans; dystrophin; and merosin on the vacuolar membranes in various vacuolar myopathies.
M, Inose +4 more
openaire +2 more sources