Cargando…

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy

Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, Hyung Jun, Hong, Ji-Man, Suh, Gyoung Im, Shin, Ha Young, Kim, Seung Min, Sunwoo, Il Nam, Suh, Bum Chun, Choi, Young-Chul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Academy of Medical Sciences 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314856/ https://www.ncbi.nlm.nih.gov/pubmed/22468107 http://dx.doi.org/10.3346/jkms.2012.27.4.423

Ejemplares similares

Clinical Heterogeneity in Korean Patients with Nemaline Myopathy
por: Hong, Ji-Man, et al.
Publicado: (2010)

Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients
por: Lee, Jun-Beom, et al.
Publicado: (2012)

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
por: Park, Hyung Jun, et al.
Publicado: (2014)

Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies
por: Lee, Seung-Ah, et al.
Publicado: (2023)

Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
por: Sim, Jae Eun, et al.
Publicado: (2013)

Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy
por: Choi, Jae-Hwan, et al.
Publicado: (2009)

Clinical Characteristics and Outcomes of Juvenile and Adult Dermatomyositis
por: Na, Sang-Jun, et al.
Publicado: (2009)

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
por: Park, Hyung Jun, et al.
Publicado: (2016)

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis
por: Choi, Kyomin, et al.
Publicado: (2018)

Therapeutic exon skipping for dysferlinopathies?
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2010)

Dysferlin and Animal Models for Dysferlinopathy
por: Kobayashi, Kinji, et al.
Publicado: (2012)

Clinical and Radiological Features of Korean Patients With Anti-HMGCR Myopathy
por: Oh, Eun Kyoung, et al.
Publicado: (2023)

Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
por: Bouchard, Camille, et al.
Publicado: (2023)

Concomitant Functional Gastrointestinal Symptoms Influence Psychological Status in Korean Migraine Patients
por: Park, Jeong Wook, et al.
Publicado: (2013)

CCR2-64I and CCR5Δ32 Polymorphisms in Korean Patients with Myasthenia Gravis
por: Kim, Hyun Sook, et al.
Publicado: (2007)

Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis
por: Park, Hyung Jun, et al.
Publicado: (2018)

A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
por: Sim, Jae Eun, et al.
Publicado: (2013)

AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
por: Ono, Hiroya, et al.
Publicado: (2020)

Muscle membrane repair and inflammatory attack in dysferlinopathy
por: Han, Renzhi
Publicado: (2011)

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
por: Matsuda, Chie, et al.
Publicado: (2015)

Magnetic resonance imaging pattern variability in dysferlinopathy
por: Bardakov, Sergey N., et al.
Publicado: (2021)

The Clinical Outcome Study for dysferlinopathy: An international multicenter study
por: Harris, Elizabeth, et al.
Publicado: (2016)

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
por: Seo, Kyowon, et al.
Publicado: (2021)

Repetitive Nerve Stimulation in MuSK-Antibody-Positive Myasthenia Gravis
por: Kim, Seung Woo, et al.
Publicado: (2017)

Dysferlinopathy course and sportive activity: clues for possible treatment
por: Angelini, C., et al.
Publicado: (2011)

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
por: Petersen, Jens A., et al.
Publicado: (2015)

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
por: Khaiboullina, Svetlana F., et al.
Publicado: (2017)

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
por: Park, Hyung Jun, et al.
Publicado: (2017)

Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation
por: Xie, Yan, et al.
Publicado: (2022)

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

The Role of Insulin Resistance in Diabetic Neuropathy in Koreans with Type 2 Diabetes Mellitus: A 6-Year Follow-Up Study
por: Cho, Yu Na, et al.
Publicado: (2014)

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
por: Wang, Ning, et al.
Publicado: (2022)

Etiology and Clinical Characteristics of Community-Acquired Pneumonia in Korean Children During the Pre-COVID-19 Period, 2015-2020
por: Suh, Jung Ho, et al.
Publicado: (2023)

Positive-Thinking and Life Satisfaction amongst Koreans
por: Jung, Ji Young, et al.
Publicado: (2007)

Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy
por: Lee, Seung-Ah, et al.
Publicado: (2023)

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis
por: Angelini, Corrado, et al.
Publicado: (2011)

Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy
por: Lee, Yun-Sil, et al.
Publicado: (2015)

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
por: Umakhanova, Zoya R., et al.
Publicado: (2017)

Water T2 could predict functional decline in patients with dysferlinopathy
por: Moore, Ursula, et al.
Publicado: (2022)

Bibliographical Characteristics of North Korean Medical Journals and Articles
por: Ha, Shin, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_d0dqkkpbj442e645usft3ti4fc