Cargando…

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

BACKGROUND: X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1). METHODS: Evaluation of clinical...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nishikawa, Atsuko, Iida, Aritoshi, Hayashi, Shinichiro, Okubo, Mariko, Oya, Yasushi, Yamanaka, Gaku, Takahashi, Ikuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503166/ https://www.ncbi.nlm.nih.gov/pubmed/30884204 http://dx.doi.org/10.1002/mgg3.621

Ejemplares similares

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

X-linked recessive myotubular myopathy with MTM1 mutations
por: Han, Young-Mi, et al.
Publicado: (2013)

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

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
por: Lee, Eun Hye, et al.
Publicado: (2013)

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

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
por: Kopke, Matthew A., et al.
Publicado: (2022)

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)

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
por: Bosco, Luca, et al.
Publicado: (2022)

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
por: Chausova, Polina, et al.
Publicado: (2023)

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
por: Karolczak, Sophie, et al.
Publicado: (2023)

X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
por: Jeon, Ji Hyun, et al.
Publicado: (2011)

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
por: Shelton, G Diane, et al.
Publicado: (2015)

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
por: Al-Hashim, Aqeela, et al.
Publicado: (2017)

Centronuclear (myotubular) myopathy
por: Jungbluth, Heinz, et al.
Publicado: (2008)

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies
por: Momma, Kazunari, et al.
Publicado: (2012)

Respiratory care in myotubular myopathy
por: Tan, Hui-leng, et al.
Publicado: (2021)

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

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

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis
por: Nishimori, Yukako, et al.
Publicado: (2021)

Extensive morphological and immunohistochemical characterization in myotubular myopathy
por: Shichiji, Minobu, et al.
Publicado: (2013)

Arrhythmias in patients with X-linked myotubular myopathy
por: Pons-Espinal, Marina, et al.
Publicado: (2023)

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

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study
por: Mori-Yoshimura, Madoka, et al.
Publicado: (2022)

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

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply
por: Nagatomo, Yuji, et al.
Publicado: (2023)

Tamoxifen therapy in a murine model of myotubular myopathy
por: Maani, Nika, et al.
Publicado: (2018)

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
por: Noguchi, Satoru, et al.
Publicado: (2016)

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

A natural history study of X-linked myotubular myopathy
por: Amburgey, Kimberly, et al.
Publicado: (2017)

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy
por: Lloyd, Andrew, et al.
Publicado: (2021)

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

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
por: Biancalana, Valérie, et al.
Publicado: (2018)

Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies
por: Snead, E.C.R., et al.
Publicado: (2015)

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
por: Gómez-Oca, Raquel, et al.
Publicado: (2021)

Natural history of a mouse model of X-linked myotubular myopathy
por: Sarikaya, Ege, et al.
Publicado: (2022)

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

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years
por: Werlauff, U., et al.
Publicado: (2015)

A nationwide survey on Marinesco-Sjögren syndrome in Japan
por: Goto, Masahide, et al.
Publicado: (2014)

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
por: Dowling, James J., et al.
Publicado: (2009)

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
por: Carstens, Per-Ole, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_rcpsh6ug2ntnt9qupb9mlsl0tr