LAMA2- relatert muskeldystrofi
Engelsk navn: Congenital fiber-type disproportion myopathy
Engelske synonym: CFTDM
Definisjon
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.
Fra Orphanet
ORPHA: 2020
Klassifiseringsnivå: Disorder
ICD-10: G71.2