Ontology highlight
ABSTRACT:
SUBMITTER: Avasthi KK
PROVIDER: S-EPMC6935987 | biostudies-literature | 2019 Oct-Dec
REPOSITORIES: biostudies-literature
Avasthi Kapil K KK Agarwal Sarita S Panigrahi Inusha I
Journal of pediatric neurosciences 20191001 4
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies an ...[more]