Cargando…

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in PABPN1 gene. CASE PRESENTATION: A 7...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nishii, Yo-suke, Noto, Yu-ichi, Yasuda, Rei, Kitaoji, Takamasa, Ashida, Shinji, Tanaka, Eijirou, Minami, Narihiro, Nishino, Ichizo, Mizuno, Toshiki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256512/ https://www.ncbi.nlm.nih.gov/pubmed/34225694 http://dx.doi.org/10.1186/s12883-021-02300-x

Ejemplares similares

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion
por: Takahashi, Yoshiaki, et al.
Publicado: (2023)

PABPN1 gene therapy for oculopharyngeal muscular dystrophy
por: Malerba, A., et al.
Publicado: (2017)

Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2019)

Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease
por: Park, Sihyung, et al.
Publicado: (2020)

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017)

P-7 Clinical and electrophysiological feature of 13 Italian patients with oculopharyngeal muscular dystrophy (OPMD)
por: Fiorillo, C., et al.
Publicado: (2011)

Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease
por: Harish, Pradeep, et al.
Publicado: (2020)

Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy
por: Barbezier, Nicolas, et al.
Publicado: (2011)

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging
por: Anvar, Seyed Yahya, et al.
Publicado: (2013)

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy
por: Vest, Katherine E., et al.
Publicado: (2015)

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
por: Ogasawara, Masashi, et al.
Publicado: (2022)

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
por: Jerath, Nivedita U., et al.
Publicado: (2015)

Novel Metabolomic Approach for Identifying Pathology-Specific Biomarkers in Rare Diseases: A Case Study in Oculopharyngeal Muscular Dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2023)

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling
por: Richard, Pascale, et al.
Publicado: (2015)

Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy
por: Roth, Fanny, et al.
Publicado: (2022)

Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu
por: Rodriguez-Paris, Juan, et al.
Publicado: (2016)

FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma
por: Akdeniz Odemis, Demet, et al.
Publicado: (2020)

Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism
por: Sadhukhan, Dipanwita, et al.
Publicado: (2020)

Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis
por: Milanowski, Lukasz M., et al.
Publicado: (2022)

Sonographic Nerve Enlargement in a Patient with Sarcoidosis
por: Kitaoji, Takamasa, et al.
Publicado: (2020)

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()
por: Maeda, Marilia Yuri, et al.
Publicado: (2015)

The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer
por: Akbari, Mohammad R., et al.
Publicado: (2012)

Frequency of KRAS p.Gly12Cys Mutation in Brazilian Patients With Lung Cancer
por: Cavagna, Rodrigo, et al.
Publicado: (2021)

Attack Interval Is the Key to the Likely Pathogenesis of Multiple Transient Ischemic Attacks
por: Nagakane, Yoshinari, et al.
Publicado: (2021)

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
por: Vostrukhina, Olga A., et al.
Publicado: (2022)

ASXL1 c.1934dup;p.Gly646Trpfs*12—a true somatic alteration requiring a new approach
por: Yannakou, Costas K., et al.
Publicado: (2017)

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era
por: Montes-Moreno, Santiago, et al.
Publicado: (2018)

TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension
por: Shinya, Yoshiki, et al.
Publicado: (2021)

Dysfunctional transcripts are formed by alternative polyadenylation in OPMD
por: Raz, Vered, et al.
Publicado: (2017)

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
por: Colima Fausto, Ana Gabriela, et al.
Publicado: (2017)

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant
por: Jia, Alicia, et al.
Publicado: (2020)

PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation
por: Guan, Wen-Liang, et al.
Publicado: (2023)

Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation
por: Kim, Myung-Jin, et al.
Publicado: (2016)

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
por: Choi, Ji Young, et al.
Publicado: (2018)

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia
por: Scoppettuolo, Pasquale, et al.
Publicado: (2020)

Angioimmunoblastic T-cell lymphoma-like lymphadenopathy in mice transgenic for human RHOA with p.Gly17Val mutation
por: Lee, Gyu Jin, et al.
Publicado: (2020)

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
por: Turski, Paweł, et al.
Publicado: (2022)

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
por: Martinez de Lapiscina, Idoia, et al.
Publicado: (2023)

Differences between β-Ala and Gly-Gly in the design of amino acids-based hydrogels
por: Pasc, Andreea, et al.
Publicado: (2010)

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
por: Sheikh, Taimoor I, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_engf1tb415vd3jj6kdn3avmjkk