The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neuromuscular junction and result in fatiguable muscle weakness. A subgroup of CMS patients have a recessively inherited limb-girdle pattern of weakness caused by mutations in DOK7. DOK7...

Full description

Bibliographic Details
Main Authors:	Cossins, J, Liu, W, Belaya, K, Maxwell, S, Oldridge, M, Lester, T, Robb, S, Beeson, D
Format:	Journal article
Language:	English
Published:	2012

Similar Items

The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
by: Beeson, D, et al.
Published: (2012)

Dok-7 mutations underlie a neuromuscular junction synaptopathy.
by: Beeson, D, et al.
Published: (2006)

Clinical features of the DOK7 neuromuscular junction synaptopathy.
by: Palace, J, et al.
Published: (2007)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
by: Beeson, D, et al.
Published: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
by: Beeson, D, et al.
Published: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
by: Lashley, D, et al.
Published: (2010)

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
by: Müller, J, et al.
Published: (2007)

Congenital myasthenic syndromes and the neuromuscular junction.
by: Cruz, P, et al.
Published: (2014)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
by: Beeson, D
Published: (2008)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
by: Burke, G, et al.
Published: (2013)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
by: Rodríguez Cruz, P, et al.
Published: (2018)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
by: Beeson, D, et al.
Published: (2006)

Congenital myasthenic syndrome caused by mutations in DPAGT.
by: Klein, A, et al.
Published: (2015)

DOK7 congenital myasthenic syndrome.
by: Palace, J
Published: (2012)

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
by: Jephson, C, et al.
Published: (2010)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
by: Yamanashi, Y, et al.
Published: (2008)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
by: Belaya, K, et al.
Published: (2012)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
by: Zoltowska, K, et al.
Published: (2013)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
by: Zoltowska, K, et al.
Published: (2013)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
by: Xufeng Liao, et al.
Published: (2023-09-01)

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
by: Klein, A, et al.
Published: (2013)

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
by: Klein, A, et al.
Published: (2013)

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)

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
by: Jorge A. Bevilacqua, et al.
Published: (2017-09-01)

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
by: Belaya, K, et al.
Published: (2012)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
by: Cossins, J, et al.
Published: (2013)

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
by: Belaya, K, et al.
Published: (2012)

Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
by: Cossins, J, et al.
Published: (2010)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
by: Cossins, J, et al.
Published: (2013)

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
by: Hamuro, J, et al.
Published: (2008)

Fluorescent receptors to light up the neuromuscular junction
by: Cossins, J, et al.
Published: (2011)

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
by: Arimura, S, et al.
Published: (2014)

Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome
by: Clausen, L
Published: (2015)

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
by: Basiri, K, et al.
Published: (2013)

Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
by: Webster, R, et al.
Published: (2011)

The congenital myasthenic syndromes.
by: Palace, J, et al.
Published: (2008)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
by: Man, S, et al.
Published: (2005)

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
by: Rodríguez Cruz, P, et al.
Published: (2019)

Congenital myasthenic syndromes.
by: Beeson, D, et al.
Published: (1997)