Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted oc...

書目詳細資料
Main Authors:	Salih, M, Oystreck, D, Al-Faky, Y, Kabiraj, M, Omer, M, Subahi, E, Beeson, D, Abu-Amero, K, Bosley, T
格式:	Journal article
語言:	English
出版:	2011

相似書籍

<italic>De Novo</italic> CHRNE Mutation: Congenital Myasthenic Syndrome
由: Hande Gazeteci Tekin, et al.
出版: (2019-12-01)

Homozygous Duplication in the <i>CHRNE</i> in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
由: Ahmad M. Almatrafi, et al.
出版: (2023-11-01)

Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome
由: Ankith Naveen, et al.
出版: (2024-05-01)

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
由: Adela Della Marina, et al.
出版: (2025-02-01)

CHRNE Mutation and Congenital Myasthenia
由: J Gordon Millichap
出版: (2009-01-01)

P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
由: Aashish Batheja, et al.
出版: (2024-01-01)

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
由: Chang, T, et al.
出版: (2016)

The congenital myasthenic syndromes.
由: Palace, J, et al.
出版: (2008)

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

Congenital myasthenic syndromes.
由: Beeson, D, et al.
出版: (1997)

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

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
由: Bonifati, D, et al.
出版: (2004)

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

Synaptic dysfunction in congenital myasthenic syndromes.
由: Beeson, D
出版: (2012)

Congenital myasthenic syndromes: recent advances
由: Beeson, D
出版: (2016)

Congenital myasthenic syndromes: an update.
由: Finlayson, S, et al.
出版: (2013)

Therapeutic strategies for congenital myasthenic syndromes
由: Lee, M, et al.
出版: (2018)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
由: Mewasingh, L, et al.
出版: (2006)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
由: Finlayson, S, et al.
出版: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
由: Finlayson, S, et al.
出版: (2013)

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

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

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

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

Congenital myasthenic syndrome with episodic apnoea: new mutations and an unusual complication
由: Davies, N, et al.
出版: (2004)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
由: Webster, R, et al.
出版: (2012)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
由: Webster, R, et al.
出版: (2012)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
由: Brownlow, S, et al.
出版: (2000)

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

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
由: Lashley, D, et al.
出版: (2009)

Congenital myasthenic syndromes: Report of 7 Chile
由: Kleinsteuber, K, et al.
出版: (2003)

New diagnosis in Chilean population: congenital myasthenic syndromes
由: Kleinsteuber, K, et al.
出版: (2005)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
由: Spillane, J, et al.
出版: (2012)

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

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

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

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

Development of a dHPLC-WAVE service to detect mutations in congenital myasthenic syndrome
由: Man, S, et al.
出版: (2002)

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
由: Vanhaesebrouck, AE, et al.
出版: (2019)

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