Cargando…

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis

OBJECTIVES: The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis. METHODS: We performed clinicopathologic diagnosis and genomic analysis using trio-based exome sequencing. RESULTS: A 14-year-old boy had contractures in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nishimori, Yukako, Iida, Aritoshi, Ogasawara, Masashi, Okubo, Mariko, Yonenobu, Yuki, Kinoshita, Makoto, Sugie, Kazuma, Noguchi, Satoru, Nishino, Ichizo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Clinical/Scientific Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8682965/ https://www.ncbi.nlm.nih.gov/pubmed/34934811 http://dx.doi.org/10.1212/NXG.0000000000000649

Ejemplares similares

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
por: Čulić, Vida, et al.
Publicado: (2016)

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

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
por: Nishikawa, Atsuko, et al.
Publicado: (2019)

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family
por: Li, Yue, et al.
Publicado: (2022)

Causative variant profile of collagen VI-related dystrophy in Japan
por: Inoue, Michio, et al.
Publicado: (2021)

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
por: Ishiyama, Akihiko, et al.
Publicado: (2018)

Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I
por: Hedera, Peter, et al.
Publicado: (2018)

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
por: Serra, Gregorio, et al.
Publicado: (2022)

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2016)

Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2017)

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
por: Okubo, Mariko, et al.
Publicado: (2020)

Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
por: Matsubara, Tomoyasu, et al.
Publicado: (2021)

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
por: Nguyen, Huan T., et al.
Publicado: (2018)

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
por: Yoshioka, Wakako, et al.
Publicado: (2022)

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
por: Fujise, Kenshiro, et al.
Publicado: (2020)

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
por: Ogasawara, Masashi, et al.
Publicado: (2020)

The hip in arthrogryposis
por: Bradish, Christopher
Publicado: (2015)

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
por: Uchino, Shumpei, et al.
Publicado: (2019)

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
por: Inoue, Michio, et al.
Publicado: (2018)

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
por: Ohara, Masahiro, et al.
Publicado: (2020)

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
por: Schnabel, Franziska, et al.
Publicado: (2023)

OPEN REDUCTION OF HIP DISLOCATION IN PATIENTS WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA – AN ANTEROMEDIAL APPROACH
por: Rocha, Luis Eduardo Munhoz da, et al.
Publicado: (2015)

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
por: Yasukawa, Rika, et al.
Publicado: (2019)

A recurrent homozygous ACTN2 variant associated with core myopathy
por: Inoue, Michio, et al.
Publicado: (2021)

Distal arthrogryposis syndrome
por: Kulkarni, K. P., et al.
Publicado: (2008)

Management of the knees in arthrogryposis
por: Pontén, Eva
Publicado: (2015)

A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging
por: Tanboon, Jantima, et al.
Publicado: (2023)

Increased Signal in the Superior Cerebellar Peduncle of Patients with Progressive Supranuclear Palsy
por: Kataoka, Hiroshi, et al.
Publicado: (2019)

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
por: Okubo, Mariko, et al.
Publicado: (2017)

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy
por: Oda, Tetsuya, et al.
Publicado: (2015)

Tnni3k Modifies Disease Progression in Murine Models of Cardiomyopathy
por: Wheeler, Ferrin C., et al.
Publicado: (2009)

The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment
por: Pham, Caroline, et al.
Publicado: (2021)

Arthrogryposis multiplex congenita—an update
por: Møller-Madsen, Bjarne
Publicado: (2015)

AMC: amyoplasia and distal arthrogryposis
por: Kimber, Eva
Publicado: (2015)

Problems with the upper limb in arthrogryposis
por: Lester, Ruth
Publicado: (2015)

Renal disease progression in autosomal dominant polycystic kidney disease
por: Higashihara, Eiji, et al.
Publicado: (2012)

Autosomal dominant intellectual disability
por: Wieczorek, Dagmar
Publicado: (2018)

Autosomal dominant polycystic kidney
por: Gudadhe, Rugaved Raghavendra, et al.
Publicado: (2022)

Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
por: Chen, Yan, et al.
Publicado: (2014)

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3
por: Dilg, Daniel, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_80e00ps0is3iro1gggmh99j7ln