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- W4236084391 abstract "X-linked myotubular myopathy (XLMTM) is a rare muscular disorder with neonatal onset associated with severe hypotonia, weakness, respiratory failure, macrosomia and severe morbidity and mortality. It is classified as centronuclear myopathy based on pathologic description. The typical features include central nuclei in >25% of the fibers with abnormal oxidative stain distribution and type I atrophic fiber predominance. Here, we present a proband born from non-consanguineous parents with a neonatal presentation of severe muscle weakness, respiratory failure, mild ptosis, pectum excavatum and ischiotibialis muscle contraction. Care was withdrawn at 14 days of age. The muscle biopsy showed internalized nuclei, atrophic type I fibers, mild abnormal SDH staining and the presence of rods on Gömöri Trichome staining and in electron microscopy. An initial nemaline myopathy gene panel did not reveal any mutation in the known causative genes. An expanded neuromuscular panel including 117 genes, identified a de-novo mutation in MTM1 c.1262G>A (p.Arg421Gln). This mutation has been previously reported, causing a disruption of the phosphatase domain. Since mutations in MTM1 have not been previously associated with the presence of rods on muscle biopsy, we decided to analyze the transcriptome of the muscle, looking for non-coding mutations in the known nemaline myopathy genes. However extensive analysis did not identify any variants, novel junctions or transcript level abnormalities. In conclusion, we report a patient with a genetic diagnosis of XLMTM with a predominance of rods on muscle biopsy. Previous reports including this specific mutation did not describe rods on muscle biopsy. Possible explanations include the presence of modifier genes or a second gene mutation not yet associated with nemaline myopathy. Furthers studies will be needed for better understanding." @default.
- W4236084391 created "2022-05-12" @default.
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- W4236084391 date "2018-10-01" @default.
- W4236084391 modified "2023-09-25" @default.
- W4236084391 title "CONGENITAL MYOPATHIES (CNM)" @default.
- W4236084391 doi "https://doi.org/10.1016/j.nmd.2018.06.170" @default.
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