Nemaline myopathy
cv_term_accession
KW-1057
canonical
uniprot_keyword
KW-1057
canonical
name
Nemaline myopathy
uniprot
synonym
NEM
uniprot
synonym
NM
uniprot
synonym
Rod body myopathy
uniprot
synonym
Rod myopathy
uniprot
definition
Protein which, if defective, causes nemaline myopathy, a hereditary neuromuscular disorder characterized by generally non-progressive muscle weakness of varying severity, and abnormal thread- or rod-like structures in muscle fibers on histologic examination. The age of onset varies from birth to adulthood. The main clinical manifestations include weakness (usually most severe in the face, the neck flexors, and the proximal limb muscles), hypotonia, and depressed or absent deep tendon reflexes. Nemaline myopathy is divided into several broad groups classified by onset and severity of motor and respiratory involvement.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords