Cargando…

Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease: A case report

RATIONALE: Parkinson disease (PD) is a complex neurodegenerative movement disorder characterized by resting tremor, muscular rigidity, bradykinesia, and so on. Genetics has been regarded as an important role in the development of PD. PARK2, an autosomal recessive gene, is the most common one referri...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fang, Yu-Qing, Mao, Fei, Zhu, Mei-Jia, Li, Xiu-Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380659/ https://www.ncbi.nlm.nih.gov/pubmed/30702579 http://dx.doi.org/10.1097/MD.0000000000014228

Ejemplares similares

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early‐onset Parkinson's disease
por: Shi, Yingying, et al.
Publicado: (2017)

Han Chinese family with early‐onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene
por: Huang, Ting, et al.
Publicado: (2019)

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
por: Isaacs, David, et al.
Publicado: (2017)

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
por: Arnadottir, Gudny A., et al.
Publicado: (2017)

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
por: Shen, Ting, et al.
Publicado: (2019)

Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
por: Mitchell, Steven D., et al.
Publicado: (2021)

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
por: Fiala, Ondrej, et al.
Publicado: (2014)

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2014)

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
por: Fan, Kuan, et al.
Publicado: (2019)

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
por: Li, Tianbai, et al.
Publicado: (2020)

A Novel Mutation of PARK-2 Gene in a Patient with Early-onset Parkinson’s Disease
por: Alafifi, Tariq, et al.
Publicado: (2020)

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia
por: Fan, Peng, et al.
Publicado: (2020)

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
por: Xiao, Xueshan, et al.
Publicado: (2016)

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene
por: Ilyechova, Ekaterina Y., et al.
Publicado: (2019)

Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease
por: Chu, Min Kyung, et al.
Publicado: (2014)

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease
por: Zhang, Xiaoli, et al.
Publicado: (2021)

Case report: Early-onset Parkinson's disease with initial spastic paraparesis and hyperreflexia caused by compound heterozygous PRKN-gene exon 2 and 4 deletions
por: Jensen, Ida, et al.
Publicado: (2022)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation
por: Hu, Meixin, et al.
Publicado: (2022)

Erratum: Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease
por: Chu, Min Kyung, et al.
Publicado: (2015)

A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria
por: Gao, Chenyu, et al.
Publicado: (2020)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
por: Liu, Qi, et al.
Publicado: (2023)

Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
por: Sakaue, Satoshi, et al.
Publicado: (2017)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
por: Cai, Shuang, et al.
Publicado: (2018)

Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report
por: Deng, Tian-Qin, et al.
Publicado: (2022)

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family
por: Gong, Bo, et al.
Publicado: (2015)

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II
por: Zhu, Sijia, et al.
Publicado: (2023)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
por: Lee, Jinhee, et al.
Publicado: (2022)

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
por: Wang, Bing-lei, et al.
Publicado: (2022)

Pregnancy in Parkinson's disease with PARK2 mutations()()
por: Sazci, Ali, et al.
Publicado: (2019)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
por: Xu, Yuqing, et al.
Publicado: (2023)

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia
por: Cho, Kazutoshi, et al.
Publicado: (2018)

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease
por: Jia, Xiaodong, et al.
Publicado: (2020)

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report
por: Zhang, Tao, et al.
Publicado: (2022)

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
por: Katagiri, Satoshi, et al.
Publicado: (2018)

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease
por: Dong, Fang, et al.
Publicado: (2021)

β-thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report
por: Wu, Liusong, et al.
Publicado: (2017)

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
por: Niaz, Aram, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hu09li5eg8ojvbomg6tsmrtqli