Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations.
- Author:
Eun Hye LEE
1
;
Mi Sun YUM
;
Seong Jong PARK
;
Beom Hee LEE
;
Gu Hwan KIM
;
Han Wook YOO
;
Tae Sung KO
Author Information
- Publication Type:Case Report
- Keywords: myotubular myopathy; X-linked; MTM1; centronuclear myopathy; muscle hypotonia
- MeSH: Biopsy; Diagnosis, Differential; Genetic Testing; Humans; Infant; Male; Molecular Biology; Muscle Hypotonia; Muscles; Muscular Diseases; Myopathies, Structural, Congenital; Parturition; Protein Tyrosine Phosphatases, Non-Receptor
- From:Journal of Clinical Neurology 2013;9(1):57-60
- CountryRepublic of Korea
- Language:English
- 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.
