congenital neuromuscular disorder
National Institutes of Health
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Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy and presence of nemaline…
Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is…
Introduction: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness…
BACKGROUND
Clinical challenges associated with Moebius syndrome, a rare congenital neuromuscular disorder, include orofacial…
A simple clinical neurological test was developed to evaluate response to gene therapy in a preclinical canine model of X-linked…
Tese de mestrado, Biologia (Bioplogia Humana e Ambiente), 2009, Universidade de Lisboa, Faculdade de Ciencias
Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five…
OBJECTIVE
Most metabolic myopathies (like glycogenoses and mitochondrial myopathies) are related to inborn errors of muscle…
Subsequent to an earlier report on clinical and light microscopic data, peculiar Mallory body‐like inclusions are described in…