Cargando…

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report

BACKGROUND: Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). CASE PRESENTATION: We report a 56-year-old patient with an atypical clinical phenotype of CMT1C, which...

Descripción completa

Detalles Bibliográficos
Autores principales:	Turčanová Koprušáková, Monika, Grofik, Milan, Kantorová, Ema, Jungová, Petra, Chandoga, Ján, Kolisek, Martin, Valkovič, Peter, Škorvánek, Matej, Ploski, Rafal, Kurča, Egon, Sivák, Štefan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314550/ https://www.ncbi.nlm.nih.gov/pubmed/34311727 http://dx.doi.org/10.1186/s12883-021-02316-3

Ejemplares similares

Imaging Methods Applicable in the Diagnostics of Alzheimer’s Disease, Considering the Involvement of Insulin Resistance
por: Hnilicova, Petra, et al.
Publicado: (2023)

Current Methods of Magnetic Resonance for Noninvasive Assessment of Molecular Aspects of Pathoetiology in Multiple Sclerosis
por: Hnilicová, Petra, et al.
Publicado: (2020)

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
por: Grofik, M., et al.
Publicado: (2022)

Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
por: Grofik, M., et al.
Publicado: (2022)

Diagnosis of Charcot-Marie-Tooth Disease
por: Banchs, Isabel, et al.
Publicado: (2009)

MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
por: Nan, Haitian, et al.
Publicado: (2021)

Cystic echinococcosis causing thrombosis of the inferior vena cava in a patient with multiple sclerosis treated with alemtuzumab
por: Kantorová, Ema, et al.
Publicado: (2020)

Charcot–Marie–Tooth disease and intracellular traffic
por: Bucci, Cecilia, et al.
Publicado: (2012)

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
por: Eltawansy, Sherif Ali, et al.
Publicado: (2015)

Anejaculation in a patient with Charcot–Marie–Tooth
por: Cannarella, Rossella, et al.
Publicado: (2018)

Charcot-Marie-Tooth: From Molecules to Therapy
por: Morena, Jonathan, et al.
Publicado: (2019)

Audiological findings in the Charcot-Marie-Tooth Disease
por: Fukushima, Erika, et al.
Publicado: (2015)

Adherence to Pharmacotherapy in Patients With Parkinson's Disease Taking Three and More Daily Doses of Medication
por: Straka, Igor, et al.
Publicado: (2019)

Charcot-Marie-Tooth Disease: Seventeen Causative Genes
por: Lee, Jung-Hwa, et al.
Publicado: (2006)

Balance and muscle power of children with Charcot-Marie-Tooth
por: Silva, Tais R., et al.
Publicado: (2014)

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease
por: Lee, Hyoung-Song, et al.
Publicado: (2013)

A SIMPLE explanation for Charcot-Marie-Tooth disease
por: Short, Ben
Publicado: (2012)

ACQUIRED PES CAVUS IN CHARCOT-MARIE-TOOTH DISEASE
por: Maranho, Daniel Augusto, et al.
Publicado: (2015)

Charcot Marie Tooth Disease. A Single Disorder?
por: Fontés, Michel
Publicado: (2018)

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
por: Schiavon, Cara R., et al.
Publicado: (2021)

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
por: Stavrou, Marina, et al.
Publicado: (2021)

Anaesthetic implications in patient with Charcot-Marie-Tooth disease
por: Kapoor, Hemlata, et al.
Publicado: (2021)

The Current State of Charcot–Marie–Tooth Disease Treatment
por: Okamoto, Yuji, et al.
Publicado: (2023)

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients
por: Wang, Wenjia, et al.
Publicado: (2017)

Effect of Pillbox Organizers with Alarms on Adherence to Pharmacotherapy in Parkinson Disease Patients Taking Three and More Daily Doses of Dopaminergic Medications
por: Straka, Igor, et al.
Publicado: (2022)

The Intricate Network of Adipokines and Stroke
por: Kantorová, Ema, et al.
Publicado: (2015)

Evolution of foot manifestations in children with Charcot-Marie-Tooth disease
por: Burns, Joshua, et al.
Publicado: (2008)

Defective α-tubulin acetylation in models of Charcot-Marie-Tooth
Publicado: (2011)

Correlates of calf cramp in children with Charcot-Marie-Tooth disease
por: Blyton, Fiona E, et al.
Publicado: (2012)

Hand weakness in Charcot-Marie-Tooth disease 1X
por: Arthur-Farraj, P.J., et al.
Publicado: (2012)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease
por: Kitani-Morii, Fukiko, et al.
Publicado: (2020)

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease
por: Ouyang, Zhi-Yuan, et al.
Publicado: (2020)

MBCL-27. ASSOCIATION OF MEDULLOBLASTOMA WITH CHARCOT-MARIE-TOOTH DISEASE
por: Watanabe, Kenichiro, et al.
Publicado: (2020)

Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease
por: Chitapure, Tajuddin, et al.
Publicado: (2021)

Therapeutic Development in Charcot Marie Tooth Type 1 Disease
por: Miniou, Pierre, et al.
Publicado: (2021)

Charcot–Marie–Tooth Disease and Implications on Corneal Refractive Surgery
por: Moshirfar, Majid, et al.
Publicado: (2022)

Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2022)

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2023)

Validation of the Official Slovak Version of the Unified Dyskinesia Rating Scale (UDysRS)
por: Skorvanek, Matej, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_sqc4rfapbfgtltf42h8gok86he