Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
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Background Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form. Case Report This report describes two male infants with X-linked MTM (XLMTM). Both patients presented with generalized hypotonia and respiratory difficulties since birth. We did not perform a muscle biopsy in either patient, but their conditions were diagnosed by genetic testing of MTM1. One splicing mutation, c.63+1G>C, and a frame-shift mutation, c.473delA (p. Lys158SerfxX28), were identified. Neither mutation has been reported previously. Conclusions Genetic testing for MTM1 is helpful for the differential diagnosis of floppy male infants. We suggest that advanced molecular genetic testing may permit a correct diagnosis while avoiding invasive procedures.
Abstract
Background Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form. Case Report This report describes two male infants with X-linked MTM (XLMTM). Both patients presented with generalized hypotonia and respiratory difficulties since birth. We did not perform a muscle biopsy in either patient, but their conditions were diagnosed by genetic testing of MTM1. One splicing mutation, c.63+1G>C, and a frame-shift mutation, c.473delA (p. Lys158SerfxX28), were identified. Neither mutation has been reported previously. Conclusions Genetic testing for MTM1 is helpful for the differential diagnosis of floppy male infants. We suggest that advanced molecular genetic testing may permit a correct diagnosis while avoiding invasive procedures.
참고문헌 (12)
- Prasad AN, "The floppy infant: contribution of genetic and metabolic disorders", Brain & Development, 25, pp.457~476 (2003)
- Spiro AJ, "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy", Archives of neurology, 14, pp.1~14 (1966)
- Laporte J, "MTM1 mutations in X-linked myotubular myopathy", Human Mutation, 15, pp.393~409 (2000)
- Jungbluth H, "Centronuclear (myotubular) myopathy", Orphanet Journal of Rare Diseases, 3, pp.26~ (2008)
- Bijarnia S, "Mutation studies in X-linked myotubular myopathy in three Indian families", Indian Journal of Pediatrics, 77, pp.431~433 (2010)
- Hortobágyi T, "X-linked myotubular myopathy: report of a case with novel mutation", Journal of Child Neurology, 22, pp.447~451 (2007)
- Pierson CR, "X-linked myotubular and centronuclear myopathies", Journal of Neuropathology & Experimental Neurology, 64, pp.555~564 (2005)
- De Angelis MS, "Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases", Journal of the Neurological Sciences, 103, pp.2~9 (1991)
- Joseph M, "X-linked myotubular myopathy: clinical observations in ten additional cases", American Journal of Medical Genetics, 59, pp.168~173 (1995)
- Herman GE, "Medical complications in long-term survivors with X-linked myotubular myopathy", Journal of Pediatrics, 134, pp.206~214 (1999)
- Laporte J, "Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy", European Journal of Human Genetics, 6, pp.325~330 (1998)
- Laporte J, "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast", Nature Genetics, 13, pp.175~182 (1996)