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...

Полное описание

Библиографические подробности
Главные авторы:	Salih, M, Oystreck, D, Al-Faky, Y, Kabiraj, M, Omer, M, Subahi, E, Beeson, D, Abu-Amero, K, Bosley, T
Формат:	Journal article
Язык:	English
Опубликовано:	2011

Схожие документы

<italic>De Novo</italic> CHRNE Mutation: Congenital Myasthenic Syndrome
по: Hande Gazeteci Tekin, и др.
Опубликовано: (2019-12-01)

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

Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome
по: Ankith Naveen, и др.
Опубликовано: (2024-05-01)

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
по: Adela Della Marina, и др.
Опубликовано: (2025-02-01)

CHRNE Mutation and Congenital Myasthenia
по: J Gordon Millichap
Опубликовано: (2009-01-01)

P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
по: Aashish Batheja, и др.
Опубликовано: (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
по: Chang, T, и др.
Опубликовано: (2016)

The congenital myasthenic syndromes.
по: Palace, J, и др.
Опубликовано: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
по: Lashley, D, и др.
Опубликовано: (2010)

Congenital myasthenic syndromes.
по: Beeson, D, и др.
Опубликовано: (1997)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
по: Cossins, J, и др.
Опубликовано: (2013)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
по: Bonifati, D, и др.
Опубликовано: (2004)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
по: Cossins, J, и др.
Опубликовано: (2013)

Synaptic dysfunction in congenital myasthenic syndromes.
по: Beeson, D
Опубликовано: (2012)

Congenital myasthenic syndromes: recent advances
по: Beeson, D
Опубликовано: (2016)

Congenital myasthenic syndromes: an update.
по: Finlayson, S, и др.
Опубликовано: (2013)

Therapeutic strategies for congenital myasthenic syndromes
по: Lee, M, и др.
Опубликовано: (2018)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
по: Mewasingh, L, и др.
Опубликовано: (2006)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
по: Finlayson, S, и др.
Опубликовано: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
по: Finlayson, S, и др.
Опубликовано: (2013)

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

Congenital myasthenic syndromes and the neuromuscular junction.
по: Cruz, P, и др.
Опубликовано: (2014)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
по: Burke, G, и др.
Опубликовано: (2013)

Congenital myasthenic syndrome caused by mutations in DPAGT.
по: Klein, A, и др.
Опубликовано: (2015)

Congenital myasthenic syndrome with episodic apnoea: new mutations and an unusual complication
по: Davies, N, и др.
Опубликовано: (2004)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
по: Webster, R, и др.
Опубликовано: (2012)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
по: Webster, R, и др.
Опубликовано: (2012)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
по: Brownlow, S, и др.
Опубликовано: (2000)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
по: Rodríguez Cruz, P, и др.
Опубликовано: (2018)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
по: Lashley, D, и др.
Опубликовано: (2009)

Congenital myasthenic syndromes: Report of 7 Chile
по: Kleinsteuber, K, и др.
Опубликовано: (2003)

New diagnosis in Chilean population: congenital myasthenic syndromes
по: Kleinsteuber, K, и др.
Опубликовано: (2005)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
по: Spillane, J, и др.
Опубликовано: (2012)

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
по: Basiri, K, и др.
Опубликовано: (2013)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
по: Man, S, и др.
Опубликовано: (2005)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
по: Beeson, D, и др.
Опубликовано: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
по: Beeson, D, и др.
Опубликовано: (2008)

Development of a dHPLC-WAVE service to detect mutations in congenital myasthenic syndrome
по: Man, S, и др.
Опубликовано: (2002)

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
по: Vanhaesebrouck, AE, и др.
Опубликовано: (2019)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
по: Yamanashi, Y, и др.
Опубликовано: (2008)