Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene-Reference-Cited by-同舟云学术

Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene

Published:2020-12 Issue:12 Volume:30 Page:991-998
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Rodrigues Daiane de Jesus,Damasceno Adilson Donizeti,Araújo César Erineudo Tavares de,Torelli Sandra Regina,Fonseca Luine Gabriela Hilário,Delfiol Diego José Zanzarini,Oliveira-Filho José Paes de,Araújo-Júnior João Pessoa,Borges Alexandre Secorun

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference37 articles.

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2. Phenotypic variability in myotonia congenita;Colding-Jorgensen;Muscle Nerve,2005

3. Clinical, molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita;Portaro;Neuromolecular Med,2015

4. Channelopathies of skeletal muscle excitability;Cannon;Compr Physiol,2015

5. Molecular basis for decreased muscle chloride conductance in the myotonic goat;Beck;Proc Natl Acad Sci USA,1996

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