Cargando…

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dys...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Younggun, Lee, Jung Hwan, Park, Hyung Jun, Choi, Young-Chul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653629/ https://www.ncbi.nlm.nih.gov/pubmed/29057633 http://dx.doi.org/10.3988/jcn.2017.13.4.405

Ejemplares similares

Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy
por: Tan, Dandan, et al.
Publicado: (2015)

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
por: Cesar, Sergi, et al.
Publicado: (2023)

Management of congenital muscular dystrophies related to defects in the LMNA gene
por: Quijano-Roy, Susana, et al.
Publicado: (2015)

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
por: Ishiyama, Akihiko, et al.
Publicado: (2018)

Lower extremity joint contracture according to ambulatory status in children with Duchenne muscular dystrophy
por: Choi, Young-Ah, et al.
Publicado: (2018)

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
por: Lee, Jung Hwan, et al.
Publicado: (2021)

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy
por: Azibani, Feriel, et al.
Publicado: (2018)

International retrospective natural history study of LMNA-related congenital muscular dystrophy
por: Ben Yaou, Rabah, et al.
Publicado: (2021)

Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine
por: PAPADOPOULOS, CONSTANTINOS, et al.
Publicado: (2019)

Comparison of Pulmonary Functions at Onset of Ventilatory Insufficiency in Patients With Amyotrophic Lateral Sclerosis, Duchenne Muscular Dystrophy, and Myotonic Muscular Dystrophy
por: Cho, Han Eol, et al.
Publicado: (2016)

Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing
por: Azibani, Feriel, et al.
Publicado: (2015)

Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy
por: Shaw, Nicholas M., et al.
Publicado: (2022)

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
por: Cesar, Sergi, et al.
Publicado: (2023)

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy
por: Bertrand, Anne T., et al.
Publicado: (2020)

Uncoordinated Transcription and Compromised Muscle Function in the Lmna-Null Mouse Model of Emery-Dreifuss Muscular Dystrophy
por: Gnocchi, Viola F., et al.
Publicado: (2011)

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
por: Park, Hyung Jun, et al.
Publicado: (2018)

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy
por: Lin, Hui-Ting, et al.
Publicado: (2018)

LMNA-mutated Rabbits: A Model of Premature Aging Syndrome with Muscular Dystrophy and Dilated Cardiomyopathy
por: Sui, Tingting, et al.
Publicado: (2019)

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient
por: Perepelina, Kseniya, et al.
Publicado: (2022)

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review
por: Feng, Xuelin, et al.
Publicado: (2020)

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
por: Park, Hyung Jun, et al.
Publicado: (2016)

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
por: Fan, Yanbin, et al.
Publicado: (2021)

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
por: Kim, Min-Wook, et al.
Publicado: (2017)

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
por: Kim, Kitae, et al.
Publicado: (2018)

Congenital muscular dystrophy type 1A with residual merosin expression
por: Kim, Hyo Jeong, et al.
Publicado: (2014)

Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy
por: ZHANG, LI, et al.
Publicado: (2015)

Positive effect of the combination of multilevel contracture release and glucocorticoid treatment in Duchenne muscular dystrophy
por: Weiß, Claudia, et al.
Publicado: (2020)

Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
por: Reichart, Beate, et al.
Publicado: (2004)

Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review
por: Chen, Tai-Heng, et al.
Publicado: (2020)

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
por: Fee, Dominic B.
Publicado: (2012)

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del
por: Madej-Pilarczyk, Agnieszka, et al.
Publicado: (2016)

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation
por: Schuster, Frank, et al.
Publicado: (2012)

Effect of stretch on improvement of muscular contractures in rats
por: Ishikura, Hideki, et al.
Publicado: (2015)

Porcine LMNA Is a Positional Candidate Gene Associated with Growth and Fat Deposition
por: Choi, Bong Hwan, et al.
Publicado: (2012)

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)
por: Ducharme-Smith, Allison, et al.
Publicado: (2021)

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
por: Saylam, Ezgi, et al.
Publicado: (2019)

Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy
por: Song, Tae-Jin, et al.
Publicado: (2011)

The association between cardiac involvement and long‐term clinical outcomes in patients with Duchenne muscular dystrophy
por: Cha, Jung‐Joon, et al.
Publicado: (2022)

A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy
por: Wong, Tatianna Wai Ying, et al.
Publicado: (2020)

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy
por: Lace, Baiba, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_rdf68es3m3n7sunghpo5uvooh9