Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
Journal of Clinical Neurology
;
: 57-60, 2013.
Article
in English
| WPRIM
| ID: wpr-112044
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Biopsy
/
Genetic Testing
/
Myopathies, Structural, Congenital
/
Parturition
/
Diagnosis, Differential
/
Protein Tyrosine Phosphatases, Non-Receptor
/
Molecular Biology
/
Muscle Hypotonia
/
Muscles
/
Muscular Diseases
Type of study:
Diagnostic study
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2013
Type:
Article
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