Home Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 754
 
About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Advertise Login 
     
CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 2  |  Page : 97-99

Follow-up and novel gene identification of the X-linked myotubular myopathy in Indian family


1 Department of Pediatrics and Neonatology, KEM and Ratna Hospital, Pune, Maharashtra, India
2 Department of Pediatrics and Neonatology, Cloudnine Hospital, Pune, Maharashtra, India

Correspondence Address:
Amit Nigade
Cloudnine Hospital, “Axon Building” Survey No 28/1, Bhamburda, Near Sakhar Sankul, Shivajinagar, Pune - 411 005, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_31_16

Rights and Permissions

Myotubular myopathy (MTM) is one of the rare types of the congenital myopathy. There are three types of inheritance documented, namely, X-linked recessive, autosomal recessive, and autosomal dominant. X-linked myotubular myopathy (XLMTM) is most common and severe in the spectrum. Usually, it is characterized by severe hypotonia and difficulty in establishing spontaneous respiration at birth in affected males. The incidence of XLMTM is estimated at 2/100,000 male neonates. The disease affects only male neonates and is linked to mutation in MTM1 gene, located on Xq28 and coding of myotubularin. Identification of the MTM1 gene mutations is of great importance as it allows confirmation of diagnosis and determination of carrier status, which is necessary for the genetic counseling. We report one case of MTM confirmed by the MTM1 gene mutation in Indian family with a history of neonatal death.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
  Search Pubmed for
  Search in Google Scholar for
Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1007    
    Printed12    
    Emailed0    
    PDF Downloaded75    
    Comments [Add]    

Recommend this journal