scholarly journals KLHL9-related early-onset distal myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Early Onset ◽  
Distal Myopathy

Laing early-onset distal myopathy in a Belgian family

2014 ◽  
Vol 114 (4) ◽  
pp. 253-256 ◽  
Author(s):  
P. Y. K. Van den Bergh ◽  
J. J. Martin ◽  
F. Lecouvet ◽  
B. Udd ◽  
E. Schmedding
Keyword(s):  
Early Onset ◽  
Distal Myopathy

scholarly journals Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family

2019 ◽  
pp. 35-46
Author(s):  
Shabnam Ghazanfari-Sarabi ◽  
Mostafa Rayati ◽  
Mohammad Bagher Hashemi-Soteh
Keyword(s):  
Early Onset ◽  
Distal Myopathy ◽  
Iranian Family

scholarly journals Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy

2015 ◽  
Vol 35 (6) ◽  
pp. 575-581 ◽  
Author(s):  
Gerald F. Reis ◽  
Grant de la Motte ◽  
Rebecca Gooding ◽  
Nigel G. Laing ◽  
Marta Margeta
Keyword(s):  
Early Onset ◽  
Distal Myopathy ◽  
Myotendinous Junctions

O7-4 Kelch-like homolog 9 (KLHL9) mutation is associated with an early onset autosomal dominant distal myopathy

2009 ◽  
Vol 13 ◽  
pp. S16
Author(s):  
S. Cirak ◽  
F.V. Deimling ◽  
S. Sachdev ◽  
W.J. Errington ◽  
R. Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

scholarly journals Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Brain ◽  
2010 ◽  
Vol 133 (7) ◽  
pp. 2123-2135 ◽  
Author(s):  
Sebahattin Cirak ◽  
Florian von Deimling ◽  
Shrikesh Sachdev ◽  
Wesley J. Errington ◽  
Ralf Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

scholarly journals Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

2004 ◽  
Vol 75 (4) ◽  
pp. 703-708 ◽  
Author(s):  
Christopher Meredith ◽  
Ralf Herrmann ◽  
Cheryl Parry ◽  
Khema Liyanage ◽  
Danielle E. Dye ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Early Onset ◽  
Skeletal Muscle Fiber ◽  
Chain Gene ◽  
Distal Myopathy ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene ◽  
Slow Skeletal Muscle

P98 Distal myopathy induced the onset of arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant

2020 ◽  
Vol 41 (Supplement_1) ◽  
Author(s):  
D Wang ◽  
P Chen ◽  
Z Li ◽  
B Yu ◽  
F Ma ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Early Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Missense Variant ◽  
Incomplete Penetrance ◽  
Distal Myopathy ◽  
Ventricular Cardiomyopathy ◽  
Western Blots ◽  
Targeted Next Generation Sequencing ◽  
Functional Analyses

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiac disease predominantly caused by variants in desmosome genes. Variants in human Desmoglein-2 (DSG2) gene can cause ARVC with incomplete penetrance. However, it remains unknown whether ARVC would penetrate by distal myopathy. Methods We performed targeted next-generation sequencing using a cardiomyopathy/ion channelopathy panel in a Chinese ARVC pedigree. Plasmids of DSG2 were constructed, and pathogenicity of the DSG2 variant was investigated by real-time PCR, western blots, Immunofluorescence, and electron microscope. Results We identified a novel nonsense variant in DSG2 (c.710T > A, p.Leu237Ter) and a reported pathogenic missense variant of distal myopathy in MYH7 (c. 1322C > T, p.Thr441Met) in the proband of an ARVC pedigree. The functional analyses suggested that the nonsense variant could affect the expression and cell location of DSG2, and the number and shape of desmosomes were affected as well, indicating that the variant was implicated in the pathogenesis of ARVC. We found only patients carrying the distal myopathy pathogenic variant would manifested early-onset severe ARVC phenotype, which suggested that MYH7-p.Thr441Met variant could induced the onset of ARVC in the DSG2-p.Leu237Ter variant carriers. Conclusions Our study identified a novel null variant in DSG2 gene (c.710T > A, p.Leu237Ter) in an ARVC pedigree with incomplete penetrance. Only patients who carried a distal myopathy associated variant in MYH7 (c. 1322C > T, p.Thr441Met) would induce the onset of ARVC with early-onset and severe symptoms.

Sign in / Sign up

Export Citation Format

Share Document