Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this term includes congenital myopathies with definite changes in the muscle fiber. However, many cases remain unclarified. The term congenital hypotonia with favorable outcome includes only these last cases. A long-term follow-up study of children with congenital hypotonia with favorable outcome is presented, and a hypothetical mechanism underlying muscle shortening is discussed. The study was carried out at the Department of Child N...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
AbstractCongenital fiber-type disproportion myopathy causes impaired muscle maturation or developmen...
DISEASES of skeletal muscle occurring on or about the natal period have been traditionally separated...
The disorder is found in infants, and not many people heard of this disability. People need to be in...
We report the case of a child with congenital neuromuscular disease characterized by neonatal onset ...
BACKGROUND: Since hypotonia is the phenotype of several clinical conditions that do not always lead ...
AbstractOver the past decade there have been major advances in defining the genetic basis of the maj...
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be ...
Forty children with hypotonia and non progressive cerebral impairment were observed. In all cases mu...
Item does not contain fulltextThis case report presents a rare cause of progressive hypotonia due to...
The histopathology of biopsied skeletal muscles and clinical findings were studied in 15 patients wi...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
AbstractCongenital fiber-type disproportion myopathy causes impaired muscle maturation or developmen...
DISEASES of skeletal muscle occurring on or about the natal period have been traditionally separated...
The disorder is found in infants, and not many people heard of this disability. People need to be in...
We report the case of a child with congenital neuromuscular disease characterized by neonatal onset ...
BACKGROUND: Since hypotonia is the phenotype of several clinical conditions that do not always lead ...
AbstractOver the past decade there have been major advances in defining the genetic basis of the maj...
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be ...
Forty children with hypotonia and non progressive cerebral impairment were observed. In all cases mu...
Item does not contain fulltextThis case report presents a rare cause of progressive hypotonia due to...
The histopathology of biopsied skeletal muscles and clinical findings were studied in 15 patients wi...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia ...
AbstractCongenital fiber-type disproportion myopathy causes impaired muscle maturation or developmen...