Cargando…

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. In recent years, causative mutations have been identified in atleast 15 genes encoding proteins of the neuromuscular junction. Mutations in MUSK are know...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abicht, Angela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pergamon Press 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018985/ https://www.ncbi.nlm.nih.gov/pubmed/24183479 http://dx.doi.org/10.1016/j.nmd.2013.08.002

Ejemplares similares

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
por: McMacken, Grace, et al.
Publicado: (2017)

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
por: Evangelista, Teresinha, et al.
Publicado: (2015)

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
por: McMacken, Grace, et al.
Publicado: (2018)

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
por: McMacken, Grace M, et al.
Publicado: (2019)

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
por: Pinto, Marcus V., et al.
Publicado: (2019)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
por: Thompson, Rachel, et al.
Publicado: (2018)

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
por: O’Connor, Emily, et al.
Publicado: (2016)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
por: Maselli, Ricardo A., et al.
Publicado: (2010)

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2019)

Anti-MuSK-Positive Myasthenic Crisis in a 7-Year-Old Female
por: Matthews, Harrison J., et al.
Publicado: (2017)

A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
por: Shen, Yanhua, et al.
Publicado: (2020)

MuSK-antibodies are associated with worse outcome in myasthenic crisis requiring mechanical ventilation
por: König, Nicole, et al.
Publicado: (2021)

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
por: Thompson, Rachel, et al.
Publicado: (2019)

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
por: O’Connor, Kaela, et al.
Publicado: (2023)

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
por: Pugliese, Alessia, et al.
Publicado: (2023)

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
por: McMacken, Grace, et al.
Publicado: (2023)

Heteroalleles in Common Wheat: Multiple Differences between Allelic Variants of the Gli-B1 Locus
por: Metakovsky, Eugene, et al.
Publicado: (2021)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
por: Nicole, Sophie, et al.
Publicado: (2017)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
por: Chen, Qiushi, et al.
Publicado: (2015)

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle
por: Zhang, Ying, et al.
Publicado: (2017)

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
por: Azuma, Yoshiteru, et al.
Publicado: (2017)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
por: Cossins, Judith, et al.
Publicado: (2013)

Myasthenic Crisis in an Elderly Patient with Positive Antibodies against Acetylcholine and Anti-MuSK, Successfully Treated with Noninvasive Mechanical Ventilation
por: Fernández, José A., et al.
Publicado: (2015)

Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation
por: Jiang, Lan, et al.
Publicado: (2023)

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis
por: Lorenzoni, Paulo José, et al.
Publicado: (2021)

Microbiota Changes in the Musk Gland of Male Forest Musk Deer During Musk Maturation
por: Li, Yimeng, et al.
Publicado: (2018)

Salbutamol and around
por: Ullmann, N, et al.
Publicado: (2015)

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
por: Basiri, Keivan, et al.
Publicado: (2013)

A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
por: Alsallum, Mohammed S., et al.
Publicado: (2021)

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
por: Gómez-García de la Banda, Marta, et al.
Publicado: (2022)

Musk in Hiccough
por: O’Brien, J. E.
Publicado: (1870)

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
por: Jacquier, Arnaud, et al.
Publicado: (2022)

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2019)

The musk chemical composition and microbiota of Chinese forest musk deer males
por: Li, Diyan, et al.
Publicado: (2016)

Correlation Analysis between Muskrat (Ondatra zibethicus) Musk and Traditional Musk
por: Shi, Xin, et al.
Publicado: (2023)

Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria
por: Sarafov, Stayko, et al.
Publicado: (2015)

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
por: Shields, Mallory C., et al.
Publicado: (2017)

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome
por: Spendiff, Sally, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2577p704cqmehaekiqfrmht9ml