Catalog

Congenital muscular dystrophy due to lamin A/C deficiency

No MMS code

Link to WHO Definition

Congenital muscular dystrophy due to lamin A/C deficiency – http://id.who.int/icd/entity/326084905

Congenital muscular dystrophy characterised by marked cervical weakness and associated with mutations in lamin A/C gene. Laminopathies are a highly heterogenous group of disorders caused by mutations in the LMNA gene, which codes for the A-type lamins of the nuclear envelope. Mutations in this gene have been associated to a marked phenotypic heterogeneity that also include non-muscular disorders. Regarding myopathic phenotypes, autosomal dominant Emery-Dreifuss, LGMD1B and muscular dystrophy associated with cardiac conduction system defects are the most common conditions.