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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Salih, M, Oystreck, D, Al-Faky, Y, Kabiraj, M, Omer, M, Subahi, E, Beeson, D, Abu-Amero, K, Bosley, T
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2011

Παρόμοια τεκμήρια

<italic>De Novo</italic> CHRNE Mutation: Congenital Myasthenic Syndrome
ανά: Hande Gazeteci Tekin, κ.ά.
Έκδοση: (2019-12-01)

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

Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome
ανά: Ankith Naveen, κ.ά.
Έκδοση: (2024-05-01)

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
ανά: Adela Della Marina, κ.ά.
Έκδοση: (2025-02-01)

CHRNE Mutation and Congenital Myasthenia
ανά: J Gordon Millichap
Έκδοση: (2009-01-01)

P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
ανά: Aashish Batheja, κ.ά.
Έκδοση: (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
ανά: Chang, T, κ.ά.
Έκδοση: (2016)

The congenital myasthenic syndromes.
ανά: Palace, J, κ.ά.
Έκδοση: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
ανά: Lashley, D, κ.ά.
Έκδοση: (2010)

Congenital myasthenic syndromes.
ανά: Beeson, D, κ.ά.
Έκδοση: (1997)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
ανά: Cossins, J, κ.ά.
Έκδοση: (2013)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
ανά: Bonifati, D, κ.ά.
Έκδοση: (2004)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
ανά: Cossins, J, κ.ά.
Έκδοση: (2013)

Synaptic dysfunction in congenital myasthenic syndromes.
ανά: Beeson, D
Έκδοση: (2012)

Congenital myasthenic syndromes: recent advances
ανά: Beeson, D
Έκδοση: (2016)

Congenital myasthenic syndromes: an update.
ανά: Finlayson, S, κ.ά.
Έκδοση: (2013)

Therapeutic strategies for congenital myasthenic syndromes
ανά: Lee, M, κ.ά.
Έκδοση: (2018)

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
ανά: Mewasingh, L, κ.ά.
Έκδοση: (2006)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
ανά: Finlayson, S, κ.ά.
Έκδοση: (2013)

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
ανά: Finlayson, S, κ.ά.
Έκδοση: (2013)

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

Congenital myasthenic syndromes and the neuromuscular junction.
ανά: Cruz, P, κ.ά.
Έκδοση: (2014)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
ανά: Burke, G, κ.ά.
Έκδοση: (2013)

Congenital myasthenic syndrome caused by mutations in DPAGT.
ανά: Klein, A, κ.ά.
Έκδοση: (2015)

Congenital myasthenic syndrome with episodic apnoea: new mutations and an unusual complication
ανά: Davies, N, κ.ά.
Έκδοση: (2004)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
ανά: Webster, R, κ.ά.
Έκδοση: (2012)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
ανά: Webster, R, κ.ά.
Έκδοση: (2012)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
ανά: Brownlow, S, κ.ά.
Έκδοση: (2000)

The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
ανά: Rodríguez Cruz, P, κ.ά.
Έκδοση: (2018)

CLINICAL FEATURES OF THE SLOW-CHANNEL CONGENITAL MYASTHENIC SYNDROME
ανά: Lashley, D, κ.ά.
Έκδοση: (2009)

Congenital myasthenic syndromes: Report of 7 Chile
ανά: Kleinsteuber, K, κ.ά.
Έκδοση: (2003)

New diagnosis in Chilean population: congenital myasthenic syndromes
ανά: Kleinsteuber, K, κ.ά.
Έκδοση: (2005)

AN UNUSUAL CASE OF CONGENITAL MYASTHENIC SYNDROME: THE MECHANISM FOR TREATMENT RESPONSE
ανά: Spillane, J, κ.ά.
Έκδοση: (2012)

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
ανά: Basiri, K, κ.ά.
Έκδοση: (2013)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
ανά: Man, S, κ.ά.
Έκδοση: (2005)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
ανά: Beeson, D, κ.ά.
Έκδοση: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
ανά: Beeson, D, κ.ά.
Έκδοση: (2008)

Development of a dHPLC-WAVE service to detect mutations in congenital myasthenic syndrome
ανά: Man, S, κ.ά.
Έκδοση: (2002)

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
ανά: Vanhaesebrouck, AE, κ.ά.
Έκδοση: (2019)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
ανά: Yamanashi, Y, κ.ά.
Έκδοση: (2008)