Cargando…

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy

Detalles Bibliográficos
Autores principales:	Kim, Min-Wook, Jang, Dae-Hyun, Kang, Jun, Lee, Seungok, Joo, Sun Young, Jang, Ja-Hyun, Cho, Eun-Hae, Choi, Young-Chul, Lee, Jung Hwan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2017
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409025/ https://www.ncbi.nlm.nih.gov/pubmed/28445022 http://dx.doi.org/10.3343/alm.2017.37.4.359

Ejemplares similares

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
por: Katz, Matthew, et al.
Publicado: (2023)

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1
por: Kim, Jaewon, et al.
Publicado: (2021)

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
por: Oh, Ja-Young, et al.
Publicado: (2016)

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
por: Christen, Matthias, et al.
Publicado: (2021)

CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy
por: Arockiaraj, Annie I., et al.
Publicado: (2023)

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)
por: Jayakody, Himali, et al.
Publicado: (2020)

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion
por: Shelton, G. Diane, et al.
Publicado: (2021)

Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
por: Hashemi-Gorji, Feyzollah, et al.
Publicado: (2018)

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort
por: Zambon, Alberto A., et al.
Publicado: (2020)

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
por: Fabian, Lacramioara, et al.
Publicado: (2020)

Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology
por: Accorsi, Anthony, et al.
Publicado: (2020)

Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics
por: Barraza-Flores, Pamela, et al.
Publicado: (2020)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
por: Zhou, Jing, et al.
Publicado: (2018)

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin
por: Qiao, Chunping, et al.
Publicado: (2018)

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy
por: KHODAENIA, Negar, et al.
Publicado: (2021)

Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation
por: Borella, Luiz Fernando Monte, et al.
Publicado: (2021)

Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy
por: Reinhard, Judith R, et al.
Publicado: (2023)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
por: Xu, Yuqing, et al.
Publicado: (2023)

LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study
por: Bouman, Karlijn, et al.
Publicado: (2023)

Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related
por: Kim, Du Hwan, et al.
Publicado: (2020)

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family
por: Park, Joonhong, et al.
Publicado: (2019)

A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report
por: Ko, Jin Young, et al.
Publicado: (2019)

Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD
por: Moreira Soares Oliveira, Bernardo, et al.
Publicado: (2017)

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy
por: Chausova, P. A., et al.
Publicado: (2021)

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
por: Tan, Dandan, et al.
Publicado: (2021)

Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy
por: Oliveira-Santos, Ariany, et al.
Publicado: (2023)

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients
por: Tran, Van Khanh, et al.
Publicado: (2023)

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients
por: Huang, Xiuli, et al.
Publicado: (2023)

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
por: Lee, Younggun, et al.
Publicado: (2017)

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)

A childhood case of spinal tuberculosis misdiagnosed as muscular dystrophy
por: Song, Doo Il, et al.
Publicado: (2010)

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
por: Sakuramoto, Hiroyuki, et al.
Publicado: (2013)

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

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report
por: AMIN, MUTAZ, et al.
Publicado: (2019)

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
por: Arreguin, Andrea J., et al.
Publicado: (2020)

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis
por: Meyer, Stefanie, et al.
Publicado: (2022)

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
por: Wang, Duo-Zi, et al.
Publicado: (2023)

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
por: Diaz-Lombana, Natalia, et al.
Publicado: (2023)

Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy
por: Suh, Mi Ri, et al.
Publicado: (2019)

Outcome Measures for COL6 and LAMA2-Related Dystrophies
por: Schwaede, Abigail N., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_7egjlksi6c9gpg9mmdrv1a6j9o