Most children with congenital myopathies maintain preserved intellectual functioning despite varying neuropsychological profiles
Children with Congenital Myopathies Often Maintain Intellectual Functioning
This systematic review examines cognitive development, neuropsychological outcomes, and quality of life in pediatric patients with various c…
Most children with congenital myopathies maintain their intellectual abilities, though specific conditions like ACTA1 may involve more sever…
Case report identifies MTM1 mutation in neonate with X-linked centronuclear myopathy
What happens when a newborn can't breathe? A rare muscle disease story
A case report and literature review describes a male neonate with severe hypotonia and respiratory failure.
A newborn boy born unable to breathe died from a rare muscle disease linked to a family history of similar tragic losses.