Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene

European Journal of Neurology ◽

10.1046/j.1468-1331.2002.00447_7.x ◽

2002 ◽

Vol 9 (6) ◽

pp. 694-695

Author(s):

S. Kraner ◽

J.-M. Burgunder ◽

K. M. Rosler ◽

O. K. Steinlein ◽

J. P. Sieb

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Missense Mutations ◽

Subunit Gene ◽

Epsilon Subunit ◽

Myasthenic Syndrome

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Congenital Myasthenic Syndrome in Cattle due to Homozygosity for a Truncating Mutation in the Acetylcholine Receptor (AChR) Epsilon-Subunit Gene

Annals of the New York Academy of Sciences ◽

10.1196/annals.1254.014 ◽

2003 ◽

Vol 998 (1) ◽

pp. 125-127 ◽

Author(s):

JOERN P. SIEB ◽

SIMONE KRANER ◽

PETER N. THOMPSON ◽

ORTRUD K. STEINLEIN

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Subunit Gene ◽

Epsilon Subunit ◽

Truncating Mutation ◽

Myasthenic Syndrome

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Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.92.3.758 ◽

1995 ◽

Vol 92 (3) ◽

pp. 758-762 ◽

Author(s):

K. Ohno ◽

D. O. Hutchinson ◽

M. Milone ◽

J. M. Brengman ◽

C. Bouzat ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Epsilon Subunit ◽

Myasthenic Syndrome ◽

Acetylcholine Receptor Channel ◽

Receptor Channel

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Congenital Myasthenic Syndrome (CMS) in Three European Kinships due to a Novel Splice Mutation (IVS7 - 2 A/G) in the Epsilon Acetylcholine Receptor (AChR) Subunit Gene

Neuropediatrics ◽

10.1055/s-2002-36738 ◽

2002 ◽

Vol 33 (5) ◽

pp. 249-254 ◽

Author(s):

N. Barisic ◽

C. Schmidt ◽

O. P. Sidorova ◽

A. Herczegfalvi ◽

B. M. Gekht ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Splice Mutation ◽

Congenital Myasthenic Syndrome ◽

Subunit Gene ◽

Myasthenic Syndrome

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Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene

Neuromuscular Disorders ◽

10.1016/s0960-8966(99)00007-3 ◽

1999 ◽

Vol 9 (3) ◽

pp. 131-135 ◽

Author(s):

K Ohno ◽

B Anlar ◽

A.G Engel

Keyword(s):

Binding Site ◽

Acetylcholine Receptor ◽

Promoter Region ◽

Congenital Myasthenic Syndrome ◽

Subunit Gene ◽

Myasthenic Syndrome

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A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

Chinese Medical Journal ◽

10.4103/0366-6999.192780 ◽

2016 ◽

Vol 129 (21) ◽

pp. 2596-2602 ◽

Author(s):

Jia-Ze Tan ◽

Yuan Man ◽

Fei Xiao

Keyword(s):

Missense Mutation ◽

Acetylcholine Receptor ◽

Autosomal Dominant ◽

Congenital Myasthenic Syndrome ◽

Chinese Family ◽

Epsilon Subunit ◽

Slow Channel ◽

Myasthenic Syndrome

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Autonomic functions in patients with congenital myasthenic syndrome due to mutations in the acetylcholine receptor epsilon subunit

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2017.04.907 ◽

2017 ◽

Vol 21 ◽

pp. e56 ◽

Author(s):

Ceren Gunbey ◽

Kutay Sel ◽

Hakan Aykan ◽

Bahadır Konuskan ◽

Cagrı Temucin ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Autonomic Functions ◽

Epsilon Subunit ◽

Myasthenic Syndrome

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A Single Nucleotide Deletion in the e Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiencya

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1998.tb10927.x ◽

1998 ◽

Vol 841 (1 MYASTHENIA GR) ◽

pp. 195-198 ◽

Author(s):

REBECCA CROXEN ◽

DAVID BEESON ◽

CLAIRE NEWLAND ◽

MARIA BETTY ◽

ANGELA VINCENT ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Myasthenic Syndrome

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An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.2004.059436 ◽

2005 ◽

Vol 76 (7) ◽

pp. 1039-1040 ◽

Author(s):

P Soltanzadeh

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Iranian Family ◽

Myasthenic Syndrome

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An 83-nucleotide promoter of the acetylcholine receptor epsilon-subunit gene confers preferential synaptic expression in mouse muscle.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.90.7.3043 ◽

1993 ◽

Vol 90 (7) ◽

pp. 3043-3047 ◽

Author(s):

A. Duclert ◽

N. Savatier ◽

J. P. Changeux

Keyword(s):

Acetylcholine Receptor ◽

Subunit Gene ◽

Mouse Muscle ◽

Epsilon Subunit

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Substrate-bound agrin induces expression of acetylcholine receptor epsilon-subunit gene in cultured mammalian muscle cells.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.93.12.5985 ◽

1996 ◽

Vol 93 (12) ◽

pp. 5985-5990 ◽

Author(s):

G. Jones ◽

A. Herczeg ◽

M. A. Ruegg ◽

M. Lichtsteiner ◽

S. Kroger ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Muscle Cells ◽

Subunit Gene ◽

Mammalian Muscle ◽

Epsilon Subunit

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