Thomsen myotonia-A 4-generation family with a new mutation and a mild phenotype

2015 ◽  
Vol 53 (4) ◽  
pp. 653-654
Author(s):  
Adina-Ioana Derevenciuc ◽  
Angela Abicht ◽  
Suad Hamza ◽  
Christian Roth ◽  
Andreas Ferbert
Keyword(s):  
New Mutation ◽  
Mild Phenotype ◽  
Generation Family

New mutation in TSC1-gene in a sporadic case with initially mild phenotype

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke
Keyword(s):  
Sporadic Case ◽  
New Mutation ◽  
Mild Phenotype ◽  
Tsc1 Gene

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

2018 ◽  
Vol 28 (8) ◽  
pp. 633-638 ◽  
Author(s):  
Lidia Gonzalez-Quereda ◽  
Eduard Gallardo ◽  
Ana Töpf ◽  
Alicia Alonso-Jimenez ◽  
Volker Straub ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Late Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
New Mutation ◽  
Mild Phenotype ◽  
Axial Involvement

scholarly journals Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

2017 ◽  
Vol 8 (2) ◽  
pp. 93-97 ◽  
Author(s):  
Luitgard M. Graul-Neumann ◽  
Eva Klopocki ◽  
Nicolai Adolphs ◽  
Martin A. Mensah ◽  
Wolfram Kress
Keyword(s):  
Mild Phenotype ◽  
Craniofacial Dysostosis ◽  
Generation Family

Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

2002 ◽  
Vol 108 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Chitra Prasad ◽  
Sandra Marles ◽  
Asuri N. Prasad ◽  
Sarah Nikkel ◽  
Sally Longstaffe ◽  
...  
Keyword(s):  
New Mutation ◽  
Mild Phenotype ◽  
Opitz Syndrome

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.

Syndrome carney-stratakis, new mutation report: SDH B: D138Y (c.412>T)

2018 ◽  
Author(s):  
Ana Ruiz Serrano ◽  
Alessandra Gabillo Ciccia ◽  
Francisca Martinez Maduena ◽  
Salome Martinez Gonzalez ◽  
Josep Oriola Ambros ◽  
...  
Keyword(s):  
New Mutation
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