Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

2020 ◽  
Author(s):  
Schaida Schirwani ◽  
Anna Sarkozy ◽  
Rahul Phadke ◽  
Anne-Marie Childs ◽  
Rachael Mein ◽  
...  
Keyword(s):  
Congenital Myopathy ◽  
Intronic Variants ◽  
Multiple Pterygium Syndrome

CYP21A2 intronic variants causing 21-hydroxylase deficiency

Metabolism ◽  
2017 ◽  
Vol 71 ◽  
pp. 46-51 ◽  
Author(s):  
Paola Concolino ◽  
Roberta Rizza ◽  
Alessandra Costella ◽  
Cinzia Carrozza ◽  
Cecilia Zuppi ◽  
...  
Keyword(s):  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Intronic Variants

Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs

Gene ◽  
2021 ◽  
Vol 775 ◽  
pp. 145428
Author(s):  
Jovana Kuveljic ◽  
Tamara Djuric ◽  
Goran Stankovic ◽  
Milica Dekleva ◽  
Aleksandra Stankovic ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Mrna Expression ◽  
First Myocardial Infarction ◽  
Intronic Variants

Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B ” mimicking Escobar variant multiple pterygium syndrome

2020 ◽  
Vol 182 (11) ◽  
pp. 2605-2610
Author(s):  
Anna H. Hakonen ◽  
Johanna Lehtonen ◽  
Sirpa Kivirikko ◽  
Riikka Keski‐Filppula ◽  
Jukka Moilanen ◽  
...  
Keyword(s):  
Multiple Pterygium Syndrome

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

2017 ◽  
Vol 136 (7) ◽  
pp. 903-910 ◽  
Author(s):  
Ellen Knierim ◽  
Esther Gill ◽  
Franziska Seifert ◽  
Susanne Morales-Gonzalez ◽  
Sathya D. Unudurthi ◽  
...  
Keyword(s):  
Congenital Myopathy ◽  
Recessive Mutation

Lethal multiple pterygium syndrome: antenatal ultrasonographic diagnosis.

2000 ◽  
Vol 19 (9) ◽  
pp. 657-660 ◽  
Author(s):  
B S Hertzberg ◽  
M A Kliewer ◽  
K Paulyson-Nunez
Keyword(s):  
Ultrasonographic Diagnosis ◽  
Multiple Pterygium Syndrome

Novel intronic variants of MICB (MHC class I chain-related gene B)

1999 ◽  
Vol 26 (6) ◽  
pp. 399-404 ◽  
Author(s):  
G. Fischer ◽  
J. R. Argüello ◽  
M. Pérez-Rodríguez ◽  
S. T. Cox ◽  
A. McWhinnie ◽  
...  
Keyword(s):  
Mhc Class I ◽  
Class I ◽  
Related Gene ◽  
Intronic Variants

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

2021 ◽  
Author(s):  
Juliana Gurgel-Giannetti ◽  
Lucas Santos Souza ◽  
Guilherme Ferraz Messina de Pádua Andrade ◽  
Maria de Fátima Derlene ◽  
Zilda Maria Alves Meira ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Dilated Cardiomyopathy ◽  
Congenital Myopathy ◽  
Fiber Size
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