Cargando…

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study

OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imag...

Descripción completa

Detalles Bibliográficos
Autores principales:	Steele, Hannah E., Harris, Elizabeth, Barresi, Rita, Marsh, Julie, Beattie, Anna, Bourke, John P., Straub, Volker, Chinnery, Patrick F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027812/ https://www.ncbi.nlm.nih.gov/pubmed/27511179 http://dx.doi.org/10.1212/WNL.0000000000003064

Ejemplares similares

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
por: Pfeffer, Gerald, et al.
Publicado: (2014)

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
por: Pfeffer, Gerald, et al.
Publicado: (2014)

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure()
por: Pfeffer, Gerald, et al.
Publicado: (2014)

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies
por: Reimann, Jens, et al.
Publicado: (2020)

Diagnosis and treatment of mitochondrial myopathies
por: Pfeffer, Gerald, et al.
Publicado: (2013)

Eosinophils in hereditary and inflammatory myopathies
por: SCHRöDER, THOMAS, et al.
Publicado: (2013)

The Proteomic Profile of Hereditary Inclusion Body Myopathy
por: Sela, Ilan, et al.
Publicado: (2011)

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin
por: Sano, Yasuteru, et al.
Publicado: (2021)

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
por: Toro, Camilo, et al.
Publicado: (2013)

Predictors of cardiac involvement in idiopathic inflammatory myopathies
por: Bandeira, Matilde, et al.
Publicado: (2023)

Evidence of Cardiac Involvement in a Patient With Necrotizing Autoimmune Myopathy (NAM)
por: Khan, Omair A, et al.
Publicado: (2023)

Hereditary Inclusion Body Myopathy (HIBM2)
por: Jay, Chris M., et al.
Publicado: (2009)

Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
por: Feng, Mengjie, et al.
Publicado: (2022)

Cardiac involvement in adult and juvenile idiopathic inflammatory myopathies
por: Schwartz, Thomas, et al.
Publicado: (2016)

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement
por: Finsterer, Josef
Publicado: (2023)

Characteristics of cardiac involvement in immune-mediated necrotizing myopathy
por: Liu, Mengyang, et al.
Publicado: (2023)

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy
por: Hudson, Gavin, et al.
Publicado: (2009)

Mitochondrial dysfunction in myofibrillar myopathy
por: Vincent, Amy E., et al.
Publicado: (2016)

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
por: Quadir, Asfia, et al.
Publicado: (2019)

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply
por: Nagatomo, Yuji, et al.
Publicado: (2023)

Corrigendum: Characteristics of cardiac involvement in immune-mediated necrotizing myopathy
por: Liu, Mengyang, et al.
Publicado: (2023)

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
por: Sparks, Susan, et al.
Publicado: (2007)

Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure
por: Ito, Mizuki, et al.
Publicado: (2021)

Pembrolizumab induced bulbar myopathy and respiratory failure with necrotizing myositis of the diaphragm
por: Haddox, C. L., et al.
Publicado: (2017)

Detection of subclinical cardiac involvement in inflammatory myopathy by CMR T1 relaxometry
por: Bravetti, Marine, et al.
Publicado: (2016)

Inflammatory Myopathy Associated with Anti-mitochondrial Antibody Presenting Only with Respiratory Failure
por: Fujii, Shintaro, et al.
Publicado: (2021)

Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies
por: Månsson, Alf
Publicado: (2014)

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy
por: Gandolfi, Barbara, et al.
Publicado: (2015)

Respiratory care in myotubular myopathy
por: Tan, Hui-leng, et al.
Publicado: (2021)

Monitoring clinical progression with mitochondrial disease biomarkers
por: Steele, Hannah E, et al.
Publicado: (2017)

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
por: Guthrie, Grant, et al.
Publicado: (2012)

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature
por: Das, Biplab, et al.
Publicado: (2016)

Respiratory failure as the prominent manifestation of entecavir-associated mitochondrial myopathy: a case report
por: Lin, Xiao, et al.
Publicado: (2022)

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
por: Akuamoah-Boateng, Gloria, et al.
Publicado: (2021)

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
por: Kramer, J.J., et al.
Publicado: (2023)

A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure
por: Yeo, Yoomi, et al.
Publicado: (2021)

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle
por: Broccolini, A., et al.
Publicado: (2011)

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
por: Guthrie, Grant, et al.
Publicado: (2016)

Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
por: Hernandez-Voth, Ana, et al.
Publicado: (2020)

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
por: Johnson, Katherine, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_mq8onq4nsqdfktkjq0jc78mbku