Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita an...

書誌詳細
主要な著者:	Burke, G, Cossins, J, Maxwell, S, Owens, G, Vincent, A, Robb, S, Nicolle, M, Hilton-Jones, D, Newsom-Davis, J, Palace, J, Beeson, D
フォーマット:	Journal article
言語:	English
出版事項:	2003

類似資料

Congenital myasthenia - Rapsyn deficiency: How rare?
著者:: Burke, G, 等
出版事項: (2003)

Congenital myasthenia: contrasting rapsyn and Dok-7 phenotypes
著者:: Palace, J
出版事項: (2010)

Distinct phenotypes of congenital acetylcholine receptor deficiency.
著者:: Burke, G, 等
出版事項: (2004)

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
著者:: Cossins, J, 等
出版事項: (2006)

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
著者:: Cossins, J, 等
出版事項: (2006)

3,4-Diaminopyridine in the treatment of congenital (hereditary) myasthenia.
著者:: Palace, J, 等
出版事項: (1991)

Hereditary and Autoimmune Myasthenias
著者:: Beeson, D
出版事項: (2013)

"THE EYES HAVE IT": INITIAL GENETIC SCREENING IN SUSPECTED CONGENITAL MYASTHENIA
著者:: Lashley, D, 等
出版事項: (2010)

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
著者:: Müller, J, 等
出版事項: (2006)

Increased expression of rapsyn in muscles prevents acetylcholine receptor loss in experimental autoimmune myasthenia gravis.
著者:: Losen, M, 等
出版事項: (2005)

A randomized double-blind trial of prednisolone alone or with azathioprine in myasthenia gravis. Myasthenia Gravis Study Group.
著者:: Palace, J, 等
出版事項: (1998)

FAST CHANNEL CONGENITAL MYASTHENIA: REVIEW OF 12 CASES AND TREATMENT CHALLENGES
著者:: Finlayson, S, 等
出版事項: (2012)

Overexpression of rapsyn in rat muscle increases acetylcholine receptor levels in chronic experimental autoimmune myasthenia gravis.
著者:: Martínez-Martínez, P, 等
出版事項: (2007)

The genetic diagnosis of congenital myasthenic syndromes (CMS)
著者:: Man, S, 等
出版事項: (2005)

The management of myasthenia gravis
著者:: Hilton-Jones, D, 等
出版事項: (2005)

Myasthenia gravis: diagnostic and management dilemmas.
著者:: Palace, J, 等
出版事項: (2001)

Myasthenia gravis.
著者:: Vincent, A, 等
出版事項: (2001)

Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
著者:: Cossins, J, 等
出版事項: (2010)

The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
著者:: Spearman, H, 等
出版事項: (2008)

A nationwide service for the diagnosis and treatment of congenital myasthenic syndromes
著者:: Burke, G, 等
出版事項: (2006)

Clinical features in a series of fast channel congenital myasthenia syndrome.
著者:: Palace, J, 等
出版事項: (2012)

Clinical features in a series of fast channel congenital myasthenia syndrome.
著者:: Palace, J, 等
出版事項: (2012)

Antibodies to AChRs in seronegative myasthenia gravis
著者:: Leite, M, 等
出版事項: (2006)

Clinical features of the DOK7 neuromuscular junction synaptopathy.
著者:: Palace, J, 等
出版事項: (2007)

Myasthenia gravis and Lambert-Eaton myasthenic syndrome
著者:: Palace, J, 等
出版事項: (2004)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
著者:: Croxen, R, 等
出版事項: (2002)

A randomized double-blind trial of prednisolone alone or with azathioprine in myasthenia gravis
著者:: Palace, J, 等
出版事項: (1998)

The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
著者:: Beeson, D, 等
出版事項: (2012)

Memory in myasthenia gravis: neuropsychological tests of central cholinergic function before and after effective immunologic treatment.
著者:: Glennerster, A, 等
出版事項: (1996)

Detection of musk antibodies in seronegative myasthenia gravis using human musk as antigen
著者:: McConville, J, 等
出版事項: (2002)

The search for new antigenic targets in myasthenia gravis.
著者:: Cossins, J, 等
出版事項: (2012)

Myasthenia gravis seronegative for acetylcholine receptor antibodies.
著者:: Vincent, A, 等
出版事項: (2008)

EPHEDRINE TREATMENT RESULTS IN PROFOUND FUNCTIONAL IMPROVEMENTS IN DOK-7 CONGENITAL MYASTHENIA
著者:: Lashley, D, 等
出版事項: (2009)

Prevalence and geographical distribution of UK congenital myasthenic syndrome patients referred to the oxford national specialist commissioning advisory group service
著者:: Lashley, D, 等
出版事項: (2007)

Congenital myasthenic syndromes and the formation of the neuromuscular junction.
著者:: Beeson, D, 等
出版事項: (2008)

Congenital myasthenic syndromes and the formation of the neuromuscular junction
著者:: Beeson, D, 等
出版事項: (2008)

Detection and characterization of MuSK antibodies in seronegative myasthenia gravis.
著者:: McConville, J, 等
出版事項: (2004)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
著者:: Xufeng Liao, 等
出版事項: (2023-09-01)

Quantitative EMG of facial muscles in myasthenia patients with MuSK antibodies.
著者:: Farrugia, M, 等
出版事項: (2007)

Antibodies to clustered acetylcholine receptor and thymic changes in seronegative myasthenia gravis
著者:: Leite, M, 等
出版事項: (2007)