X-linked myotubular myopathy in a female infant caused by a new
            <i>MTM1</i>
            gene mutation

Schara, Ulrike; Kreß, Wolfram; Tücke, Jens; Mortier, W.

doi:10.1212/01.wnl.0000058763.90924.fa

Cited by 35 publications

(16 citation statements)

References 7 publications

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“…However, this may reflect an age-dependent effect, because similar findings have been documented in older manifesting females. 23,24 ''Necklace'' fibers, recently reported in more mildly affected males and manifesting carriers with XLMTM, 19 were only seen in one patient. Type 1 predominance and hypotrophy with relative type 2 hypertrophy were almost invariable and resembled pathological features seen in congenital fiber type disproportion (CFTD).…”

Section: Discussionmentioning

confidence: 81%

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Wilmshurst

Lillis

Zhou³

et al. 2010

Annals of Neurology

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Section: Discussionmentioning

confidence: 81%

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Wilmshurst

Lillis

Zhou³

et al. 2010

Annals of Neurology

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230

221

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“…11,12 Carrier females are usually asymptomatic, however there are several records of manifesting heterozygotes due to skewed X chromosome inactivation. [13][14][15][16][17][18] The MTM1 gene (in Xq28) is composed of 15 exons and has an open reading frame of 1.8 kb encoding the myotubularin protein.…”

Section: Introductionmentioning

confidence: 99%

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Oliveira

Kreß

et al. 2012

Eur J Hum Genet

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Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin -a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulator of intermediate filaments. We report the development of a locus-specific database for MTM1 using the Leiden Open Variation database software (http://www.lovd.nl/MTM1), with data collated for 474 mutations identified in 472 patients (by June 2012). Among the entries are a total of 25 new mutations, including a large deletion encompassing introns 2-15. During database implementation it was noticed that no large duplications had been reported. We tested a group of eight uncharacterized CNM patients for this specific type of mutation, by multiple ligationdependent probe amplification (MLPA) analysis. A large duplication spanning exons 1-5 was identified in a boy with a mild phenotype, with results pointing toward possible somatic mosaicism. Further characterization revealed that this duplication causes an in-frame deletion at the mRNA level (r.343_444del). Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. A complex rearrangement involving the duplication of exon 10 has since been reported, with detection also enabled by MLPA analysis. It is thus conceivable that large duplications in MTM1 may account for a number of CNM cases that have remained genetically unresolved.

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“…The average life expectancy of XLMTM patients is 29 months, but a number of papers reported adult survivors of the disease 10-12. A female carrier of XLMTM is generally asymptomatic and slowly pregressive, and the mortality is not high compared to affected males 13,14…”

Section: Discussionmentioning

confidence: 99%

X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case withMTM1Mutation

et al. 2011

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X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.

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X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation

Cited by 35 publications

References 7 publications

RYR1 mutations are a common cause of congenital myopathies with central nuclei

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case withMTM1Mutation

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