Cargando…

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

BACKGROUND AND OBJECTIVE: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel the genetic aetiology in an English sib pair with clinical features suggestiv...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chaouch, Amina, Porcelli, Vito, Cox, Daniel, Edvardson, Shimon, Scarcia, Pasquale, De Grassi, Anna, Pierri, Ciro L., Cossins, Judith, Laval, Steven H., Griffin, Helen, Müller, Juliane S., Evangelista, Teresinha, Töpf, Ana, Abicht, Angela, Huebner, Angela, von der Hagen, Maja, Bushby, Kate, Straub, Volker, Horvath, Rita, Elpeleg, Orly, Palace, Jacqueline, Senderek, Jan, Beeson, David, Palmieri, Luigi, Lochmüller, Hanns
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746751/ https://www.ncbi.nlm.nih.gov/pubmed/26870663 http://dx.doi.org/10.3233/JND-140021

Ejemplares similares

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

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)

Phenotypic variability of TRPV4 related neuropathies
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
por: Alrohaif, Hadil, et al.
Publicado: (2018)

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

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

Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis
por: Harris, Elizabeth, et al.
Publicado: (2013)

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
por: Harris, Elizabeth, et al.
Publicado: (2017)

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

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis
por: Landfeldt, Erik, et al.
Publicado: (2016)

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy
por: Giunta, Michele, et al.
Publicado: (2016)

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
por: Chiu, Yen-Hui, et al.
Publicado: (2009)

Quantifying the burden of caregiving in Duchenne muscular dystrophy
por: Landfeldt, Erik, et al.
Publicado: (2016)

Health‐related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross‐sectional study
por: Landfeldt, Erik, et al.
Publicado: (2015)

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
por: Gallenmüller, Constanze, et al.
Publicado: (2014)

The burden of Duchenne muscular dystrophy: An international, cross-sectional study
por: Landfeldt, Erik, et al.
Publicado: (2014)

Compliance to Care Guidelines for Duchenne Muscular Dystrophy
por: Landfeldt, Erik, et al.
Publicado: (2015)

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

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
por: Ohlenbusch, Andreas, et al.
Publicado: (2012)

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)

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases
por: Rodger, Sunil, et al.
Publicado: (2013)

Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle
por: Jørgensen, Louise H., et al.
Publicado: (2011)

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy
por: Burch, Peter M., et al.
Publicado: (2015)

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
por: Boczonadi, Veronika, et al.
Publicado: (2014)

How reference networks develop, implement, and monitor guidelines
por: Kirschner, Jan, et al.
Publicado: (2012)

MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters
por: Koneczny, Inga, et al.
Publicado: (2013)

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2020)

New aspects on patients affected by dysferlin deficient muscular dystrophy
por: Klinge, Lars, et al.
Publicado: (2009)

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
por: Moreira, Sandra, et al.
Publicado: (2017)

Adult care for Duchenne muscular dystrophy in the UK
por: Rodger, Sunil, et al.
Publicado: (2014)

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks
por: Evangelista, Teresinha, et al.
Publicado: (2016)

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System
por: Confino, Shir, 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)

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
por: Chang, Thashi, et al.
Publicado: (2016)

Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders
por: Clausen, Lisa, et al.
Publicado: (2018)

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission
por: Cossins, Judith, et al.
Publicado: (2020)

Nociception and pain in humans lacking a functional TRPV1 channel
por: Katz, Ben, et al.
Publicado: (2023)

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
por: O’Neill, Audrey G, et al.
Publicado: (2023)

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
por: O’Neill, Audrey G., et al.
Publicado: (2023)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
por: Balaraju, Sunitha, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_sgse2b5rb7v8ov8r5746nb79cq