home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 365      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2019  |  Volume : 14  |  Issue : 4  |  Page : 222-224

KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate


1 Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India
2 Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre (APC), Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh 160012, India

Correspondence Address:
Dr. Inusha Panigrahi
Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre (APC), Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh 160012.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_60_19

Rights and Permissions

The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The results of our study suggest that KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia.






[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
    Viewed316    
    Printed19    
    Emailed0    
    PDF Downloaded10    
    Comments [Add]    

Recommend this journal