Cargando…

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus

Arthrogryposis multiplex congenita (AMC) is characterized by nonprogressive symmetric contractures of multiple joints with normal intellect and normal systemic examination. AMC is often due to fetal akinesia, which has neurologic, muscular, and connective tissue etiologies. We present a case of AMC...

Descripción completa

Detalles Bibliográficos
Autores principales:	Balasundaram, Palanikumar, Avulakunta, Indirapriya Darshini, Delfiner, Leslie, Levy, Paul, Forman, Katie R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368502/ https://www.ncbi.nlm.nih.gov/pubmed/37497165 http://dx.doi.org/10.1155/2023/5535083

Ejemplares similares

A Improving Birth-dose Hepatitis-B Vaccination in a Tertiary Level IV Neonatal Intensive Care Unit
por: Avulakunta, Indirapriya, et al.
Publicado: (2023)

Making sense of missense variants in TTN-related congenital myopathies
por: Rees, Martin, et al.
Publicado: (2021)

Two novel mutations in TTN of a patient with congenital myopathy: A case report
por: Jang, Joon Young, et al.
Publicado: (2019)

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy
por: Yu, Meng, et al.
Publicado: (2019)

Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus
por: Limbrick, David D., et al.
Publicado: (2017)

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
por: Roggenbuck, Jennifer, et al.
Publicado: (2019)

Congenital myopathy is caused by mutation of HACD1
por: Muhammad, Emad, et al.
Publicado: (2013)

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)

Intraventricular Septation in the Context of Dilated Cardiomyopathy Associated With TTN Mutation
por: Khandalavala, Karl R., et al.
Publicado: (2021)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
por: Biancalana, Valérie, et al.
Publicado: (2018)

INFANTILE HYDROCEPHALUS IN SOUTHERN SAUDI ARABIA
por: El Awad, Mohamed E., et al.
Publicado: (1997)

Spontaneous mutations in the single TTN gene represent high tumor mutation burden
por: Oh, Ji-Hye, et al.
Publicado: (2020)

TTN mutations predict a poor prognosis in patients with thyroid cancer
por: Han, Xiudan, et al.
Publicado: (2022)

Congenital Hydrocephalus
por: Hingston, Wm. Hales
Publicado: (1856)

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
por: Al Amrani, Fatema, et al.
Publicado: (2020)

Diagnosis between Infantile Remittent Fever and Hydrocephalus
Publicado: (1852)

Failed ventriculoperitoneal shunt as treatment of infantile hydrocephalus
por: Calgaro, Serena, et al.
Publicado: (2020)

New therapeutic hypothesis for infantile extrinsic hydrocephalus
por: Kameda, Masahiro, et al.
Publicado: (2023)

Long noncoding RNA TTN-AS1 facilitates tumorigenesis and metastasis by maintaining TTN expression in skin cutaneous melanoma
por: Wang, Ying, et al.
Publicado: (2020)

Effect of TTN Mutations on Immune Microenvironment and Efficacy of Immunotherapy in Lung Adenocarcinoma Patients
por: Wang, Zhe, et al.
Publicado: (2021)

Case of Congenital Hydrocephalus
por: Carey, W.
Publicado: (1879)

The Efficacy Analysis of Endoscopic Third Ventriculostomy in Infantile Hydrocephalus
por: He, Zhenhua, et al.
Publicado: (2015)

Hints Regarding the Utility of Tonic Treatment in Infantile Hydrocephalus
por: M'Kenzie, Wm.
Publicado: (1832)

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus
por: Chen, Yingying, et al.
Publicado: (2023)

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
por: Jacquemin, Valerie, et al.
Publicado: (2023)

Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
por: Huang, Sheng, et al.
Publicado: (2021)

Choline Dihydrogen Citrate in Infantile Biliary Cirrhosis
por: Balasundaram, S.
Publicado: (1947)

Mutations in the TTN Gene are a Prognostic Factor for Patients with Lung Squamous Cell Carcinomas
por: Zou, Sheng, et al.
Publicado: (2022)

A Rare Case of Isolated Right Ventricular Non-compaction With the Novel TTN Mutation
por: Huang, Piao-piao, et al.
Publicado: (2022)

Upregulation of Yy1 Suppresses Dilated Cardiomyopathy caused by Ttn insufficiency
por: Liao, Dan, et al.
Publicado: (2019)

Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
por: Zhang, Shan-shan, et al.
Publicado: (2023)

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
por: Vihola, Anna, et al.
Publicado: (2019)

Obstructive Infantile Hydrocephalus Secondary to Meningoventriculitis: A Case Report
por: Raut, Rupesh, et al.
Publicado: (2023)

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study
por: Zaklyazminskaya, Elena, et al.
Publicado: (2019)

Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies
por: Rossi, Daniela, et al.
Publicado: (2022)

A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome
por: Balasundaram, Palanikumar, et al.
Publicado: (2021)

Update on Congenital Myopathies in Adulthood
por: Papadimas, George Konstantinos, et al.
Publicado: (2020)

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
por: Boyden, Steven E., et al.
Publicado: (2012)

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
por: Estañ, María Cristina, et al.
Publicado: (2019)

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient
por: Mihaylova, Violeta, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ne7kjicvhqb95psjn57rlcglrs