myotubularin isoform X3 [Homo sapiens]

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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. [Eur J Med Genet. 2020]
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E. Eur J Med Genet. 2020 Nov; 63(11):104040. Epub 2020 Aug 14.
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. [Neurology. 2019]
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, et al. Neurology. 2019 Oct 15; 93(16):e1535-e1542. Epub 2019 Sep 20.
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. [Mol Genet Genomic Med. 2019]
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I. Mol Genet Genomic Med. 2019 May; 7(5):e621. Epub 2019 Mar 18.

RefSeq genomic sequence
See the genomic reference sequence for the MTM1 gene (NG_008199.1).
RefSeq mRNA
See reference mRNA sequence for the MTM1 gene (XM_011531171.2).
RefSeq protein isoforms
See 26 reference sequence protein isoforms for the MTM1 gene.

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Dryad Digital Repository [Dryad Digital Repository]
Dryad Digital Repository
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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