The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history and clinical findings suggested a postasphyxia syndrome, but dependence on mechanical ventilation in the absence of severe brain damage or evidence of heart and lung involvement prompted us to perform a muscle biopsy. The typical rod-shaped bodies of nemaline myopathy were observed in skeletal and heart muscle which is unusual in infantile forms. Neonatal bone fractures, which have not been reported previously, were detected. Due to the rapid evolution of the neonatal form, many of these patients may die undiagnosed in the perinatal period, the families remaining unaware of the existence of the genetic disorder. Therefore, if severe hypotoni...
pp. 315-338 of this journal issue entitled: Abstracts of Satellite Symposium of the Joint Congress o...
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe dise...
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clini...
Nemaline myopathy, which is characterized by the accumulation of "rod" bodies in muscle fibers is a ...
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined...
Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive...
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed d...
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clini...
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of...
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital ...
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such...
International audienceNemaline myopathy (NM) is a rare congenital myopathy characterised by hypotoni...
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly ...
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case...
Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a ca...
pp. 315-338 of this journal issue entitled: Abstracts of Satellite Symposium of the Joint Congress o...
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe dise...
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clini...
Nemaline myopathy, which is characterized by the accumulation of "rod" bodies in muscle fibers is a ...
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined...
Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive...
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed d...
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clini...
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of...
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital ...
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such...
International audienceNemaline myopathy (NM) is a rare congenital myopathy characterised by hypotoni...
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly ...
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case...
Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a ca...
pp. 315-338 of this journal issue entitled: Abstracts of Satellite Symposium of the Joint Congress o...
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe dise...
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clini...