Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of...
Main Authors: | Belaya, K, Finlayson, S, Cossins, J, Liu, W, Maxwell, S, Palace, J, Beeson, D |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2012
|
Similar Items
-
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
by: Finlayson, S, et al.
Published: (2013) -
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
by: Finlayson, S, et al.
Published: (2013) -
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
by: Belaya, K, et al.
Published: (2012) -
Congenital myasthenic syndrome caused by mutations in DPAGT.
by: Klein, A, et al.
Published: (2015) -
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
by: Belaya, K, et al.
Published: (2012)