Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

Neurology ◽  
2001 ◽  
Vol 56 (6) ◽  
pp. 785-788 ◽  
Author(s):  
S. Bonavita ◽  
R. Schiffmann ◽  
D.F. Moore ◽  
K. Frei ◽  
B. Choi ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Proteolipid Protein

scholarly journals Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

2000 ◽  
Vol 8 (11) ◽  
pp. 837-845 ◽  
Author(s):  
Fabrice Cailloux ◽  
◽  
Fernande Gauthier-Barichard ◽  
Corinne Mimault ◽  
Valerie Isabelle ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Proteolipid Protein ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

1999 ◽  
Vol 883 (1) ◽  
pp. 351-365 ◽  
Author(s):  
JAMES Y. GARBERN ◽  
FRANCA CAMBI ◽  
RICHARD LEWIS ◽  
MICHAEL SHY ◽  
ANDERS SIMA ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Proteolipid Protein

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Cholesteryl Ester Transfer Protein ◽  
Protein Gene ◽  
Gene Mutations ◽  
Transfer Protein ◽  
Phenotypic Spectrum

scholarly journals Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

2010 ◽  
Vol 3 (4) ◽  
pp. 314-322 ◽  
Author(s):  
Perry Elliott ◽  
Constantinos O'Mahony ◽  
Petros Syrris ◽  
Alison Evans ◽  
Christina Rivera Sorensen ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Desmosomal Protein

scholarly journals Valosin-Containing Protein Gene Mutations: Cellular Phenotypes Relevant to Neurodegeneration

2011 ◽  
Vol 44 (2) ◽  
pp. 91-102 ◽  
Author(s):  
Karen S. Poksay ◽  
David T. Madden ◽  
Anna K. Peter ◽  
Kayvan Niazi ◽  
Surita Banwait ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Cellular Phenotypes

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

2021 ◽  
pp. 1-2
Author(s):  
Sedigheh Saedi ◽  
Pooneh Pashapour ◽  
Golnaz Houshmand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tricuspid Valve ◽  
Cardiac Death ◽  
Rare Case ◽  
Protein Gene ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Congenital Disease ◽  
Ventricular Cardiomyopathy ◽  
Sarcomeric Protein

Abstract Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

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