Clinical and molecular diagnosis of a Costa Rican family with

Table3_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.DOCX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Targeted Next Generation Sequencing in patients with Myotonia Congenita

Ferradini V.
Cassone M.
Nuovo S.
Bagni I.
D'Apice M. R.
Botta A.
Novelli G.
Sangiuolo F.

January 2017

Introduction Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by mus...

Table1_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.XLSX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Universidad de Costa Rica Costa Rica

O Cuenca
Patricia Valle
Gerardo Del Vásquez
Melissa Brian
Roberto Sittenfeld
Mauricio Johnson
Keith Lin
Xi Ashizawa
O Morales
Patricia Cuenca
Gerardo Del Valle
Melissa Vásquez
Mauricio Sittenfeld
Keith Johnson
Xi Lin
Tetsuo Ashizawa

October 2016

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita...

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Fernando Morales
Patricia Cuenca
Gerardo del Valle
Melissa Vásquez
Roberto Brian
Mauricio Sittenfeld
Keith Johnson
Xi Lin
Tetsuo Ashizawa

March 2008

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It i...

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Orsini G.
Petillo R.
D'Ambrosio P.
Ergoli M.
Picillo E.
Scutifero M.
Passamano L.
De Luca A.
Politano L.

January 2020

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful c...

Becker’s variant of myotonia congenita in two siblings- A clinico-genetic study

Kalyan B. Bhattacharyya
P. Sengupta
S. Basu
N.P. Bhattacharya

July 2004

We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive ...

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita

Lyons, MJ
Duron, R
Molinero, I
Holden, KR
SANGIUOLO, FEDERICA CARLA

May 2010

Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle h...

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online

SANGIUOLO, FEDERICA CARLA
BOTTA, ANNALISA
NOVELLI, GIUSEPPE
Mesoraca, A
Servidei, S
Merlini, L
Fratta, G
Dallapiccola, B.

January 1998

Autosomal dominant myotonia congenita or Thomsen's disease and autosomal recessive myotonia congenit...

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Gurgel-Giannetti, Juliana
Senkevics, Adriano S.
Zilbersztajn-Gotlieb, Dinorah
Yamamoto, Lydia U.
Muniz, Viviane P.
Pavanello, Rita C. M.
Oliveira, Acary B.
Zatz, Mayana
Vainzof, Mariz

January 2012

We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thom...

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

Jing Miao
Xiao-jing Wei
Xue-mei Liu
Zhi-xia Kang
Yan-lu Gao
Xue-fan Yu

September 2018

Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations...

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Portaro, Simona
Altamura, Concetta
Licata, Norma
Camerino, Giulia M
Imbrici, Paola
Musumeci, Olimpia
Rodolico, Carmelo
Conte Camerino, Diana
Toscano, Antonio
Desaphy, Jean-François

January 2015

Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation a...

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene

Morales Montero, Fernando
Cuenca Berger, Patricia
del Valle Carazo, Gerardo
Vásquez Cerdas, Melissa
Brian Gago, Roberto
Sittenfeld Appel, Mauricio
Johnson, Keith
Lin, Xi
Ashizawa, Tetsuo

August 2006

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It ...

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

Gao, Feng
Ma, Fu Chan
Yuan, Zhe Feng
Yang, Cui Wei
Li, Hai Feng
Xia, Zhe Zhi
Shui, Quan Xiang
Jiang, Ke Wen

December 2010

Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride chann...

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)

Ferese R.
Albano V.
Falconi M.
Iacovelli F.
Campopiano R.
Scala S.
Griguoli A. M.
Gaglione A.
Giardina E.
Zampatti S.
Storto M.
Fornai F.
D'Alessio C.
Novelli G.
Gambardella S.

January 2017

Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations in _CLCN_1 ge...

Table3_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.DOCX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Targeted Next Generation Sequencing in patients with Myotonia Congenita

Ferradini V.
Cassone M.
Nuovo S.
Bagni I.
D'Apice M. R.
Botta A.
Novelli G.
Sangiuolo F.

January 2017

Introduction Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by mus...

Table1_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.XLSX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Universidad de Costa Rica Costa Rica

O Cuenca
Patricia Valle
Gerardo Del Vásquez
Melissa Brian
Roberto Sittenfeld
Mauricio Johnson
Keith Lin
Xi Ashizawa
O Morales
Patricia Cuenca
Gerardo Del Valle
Melissa Vásquez
Mauricio Sittenfeld
Keith Johnson
Xi Lin
Tetsuo Ashizawa

October 2016

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita...

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Fernando Morales
Patricia Cuenca
Gerardo del Valle
Melissa Vásquez
Roberto Brian
Mauricio Sittenfeld
Keith Johnson
Xi Lin
Tetsuo Ashizawa

March 2008

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It i...

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Orsini G.
Petillo R.
D'Ambrosio P.
Ergoli M.
Picillo E.
Scutifero M.
Passamano L.
De Luca A.
Politano L.

January 2020

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful c...

Becker’s variant of myotonia congenita in two siblings- A clinico-genetic study

Kalyan B. Bhattacharyya
P. Sengupta
S. Basu
N.P. Bhattacharya

July 2004

We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive ...

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita

Lyons, MJ
Duron, R
Molinero, I
Holden, KR
SANGIUOLO, FEDERICA CARLA

May 2010

Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle h...

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online

SANGIUOLO, FEDERICA CARLA
BOTTA, ANNALISA
NOVELLI, GIUSEPPE
Mesoraca, A
Servidei, S
Merlini, L
Fratta, G
Dallapiccola, B.

January 1998

Autosomal dominant myotonia congenita or Thomsen's disease and autosomal recessive myotonia congenit...

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Gurgel-Giannetti, Juliana
Senkevics, Adriano S.
Zilbersztajn-Gotlieb, Dinorah
Yamamoto, Lydia U.
Muniz, Viviane P.
Pavanello, Rita C. M.
Oliveira, Acary B.
Zatz, Mayana
Vainzof, Mariz

January 2012

We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thom...

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

Jing Miao
Xiao-jing Wei
Xue-mei Liu
Zhi-xia Kang
Yan-lu Gao
Xue-fan Yu

September 2018

Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations...

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Portaro, Simona
Altamura, Concetta
Licata, Norma
Camerino, Giulia M
Imbrici, Paola
Musumeci, Olimpia
Rodolico, Carmelo
Conte Camerino, Diana
Toscano, Antonio
Desaphy, Jean-François

January 2015

Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation a...

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene

Morales Montero, Fernando
Cuenca Berger, Patricia
del Valle Carazo, Gerardo
Vásquez Cerdas, Melissa
Brian Gago, Roberto
Sittenfeld Appel, Mauricio
Johnson, Keith
Lin, Xi
Ashizawa, Tetsuo

August 2006

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It ...

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

Gao, Feng
Ma, Fu Chan
Yuan, Zhe Feng
Yang, Cui Wei
Li, Hai Feng
Xia, Zhe Zhi
Shui, Quan Xiang
Jiang, Ke Wen

December 2010

Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride chann...

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)

Ferese R.
Albano V.
Falconi M.
Iacovelli F.
Campopiano R.
Scala S.
Griguoli A. M.
Gaglione A.
Giardina E.
Zampatti S.
Storto M.
Fornai F.
D'Alessio C.
Novelli G.
Gambardella S.

January 2017

Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations in _CLCN_1 ge...

Table3_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.DOCX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Targeted Next Generation Sequencing in patients with Myotonia Congenita

Ferradini V.
Cassone M.
Nuovo S.
Bagni I.
D'Apice M. R.
Botta A.
Novelli G.
Sangiuolo F.

January 2017

Introduction Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by mus...

Table1_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.XLSX

Nurul Huda Musa (14317911)
Karuppiah Thilakavathy (14317914)
Nur Afiqah Mohamad (10987995)
Marina L. Kennerson (3149982)
Liyana Najwa Inche Mat (9462848)
Wei Chao Loh (9462839)
Anna Misyail Abdul Rashid (10987998)
Janudin Baharin (9462845)
Azliza Ibrahim (9930845)
Wan Aliaa Wan Sulaiman (9462851)
Fan Kee Hoo (9462860)
Hamidon Basri (6122072)
Abdul Hanif Khan Yusof Khan (9462833)

January 2023

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene en...

Clinical and molecular diagnosis of a Costa Rican family with

Abstract

Extracted data

Clinical and molecular diagnosis of a Costa Rican family with

Abstract

Extracted data

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