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

2006 ◽  
Vol 56 (1) ◽  
Author(s):  
Fernando Morales ◽  
Patricia Cuenca ◽  
Gerardo Del Valle ◽  
Melissa Vásquez ◽  
Roberto Brian ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Costa Rican ◽  
New Mutation ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology ◽  
2000 ◽  
Vol 55 (11) ◽  
pp. 1697-1703 ◽  
Author(s):  
S. Nagamitsu ◽  
T. Matsuura ◽  
M. Khajavi ◽  
R. Armstrong ◽  
C. Gooch ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

scholarly journals Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Maria Francisca Coutinho ◽  
Marisa Encarnação ◽  
Francisco Laranjeira ◽  
Lúcia Lacerda ◽  
Maria João Prata ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Genetic Disorders ◽  
Causative Mutation ◽  
Lysosomal Storage ◽  
Allelic Dropout ◽  
Type Iii ◽  
Alpha Beta ◽  
Mucolipidosis Type

AbstractWhile being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the

An autosomal recessive CMT family with a new mutation in the NDRG1 gene

2013 ◽  
Vol 333 ◽  
pp. e478
Author(s):  
M.T. Goksungur ◽  
Y. Okamoto ◽  
D. Pehlivan ◽  
Z. Matur ◽  
K. Akyüz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Mutation ◽  
Ndrg1 Gene ◽  
Autosomal Recessive Cmt

Molecular diagnosis of autosomal recessive non-syndromic hearing losses

2012 ◽  
Vol 1 (2) ◽  
pp. 45-50
Author(s):  
Zeynep Ocak ◽  
Abdulgani Tatar ◽  
Ahmet Yesilyurt ◽  
Sitki Oztas
Keyword(s):  
Molecular Diagnosis ◽  
Autosomal Recessive
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