Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

2017 ◽  
Vol 62 (10) ◽  
pp. 885-888 ◽  
Author(s):  
Janusz G Zimowski ◽  
Magdalena Pawelec ◽  
Joanna K Purzycka ◽  
Walentyna Szirkowiec ◽  
Jacek Zaremba
2021 ◽  
Vol Volume 14 ◽  
pp. 399-408
Author(s):  
Paula Triana-Fonseca ◽  
Juan Fernando Parada-Márquez ◽  
Claudia T Silva-Aldana ◽  
Daniela Zambrano-Arenas ◽  
Laura Lucia Arias-Gomez ◽  
...  

2015 ◽  
Vol 15 (6) ◽  
pp. 563-571 ◽  
Author(s):  
Mirella Meregalli ◽  
Andrea Farini ◽  
Clementina Sitzia ◽  
Cyriaque Beley ◽  
Paola Razini ◽  
...  

Author(s):  
Jayaraj R. ◽  
Veena G. Rao ◽  
Jyothi Nagalikar

Ducchen’s muscular dystrophy is most common X-linked recessive disorder affecting 30 in 100,000 live male births. The primary cause of this disease is mutations in Dystrophin gene which is essential for the structural and functional integrity of muscle. It is a progressive muscle wasting disease in which patients frequently develop contractures and lose the ability to walk between 6 and 12 years of age. With progressive disease most patients succumb to death from respiratory failure and cardiac dysfunction in their twenties. As this is a genetic disorder we can consider it as Adibala Pravritta Vyadhi. As Mamsa Kshaya is seen at some muscles and Mamsa Vriddhi at other this is an Avarana Vata Vyadhi. In both Upsthambha and Nirupasthmbha Vatavyadhi, Basthi is considered as prime choice of treatment. A Variety of Ksheerabasti in the form of Kalabasti is studied in this condition by taking subjective and objective parameters. As this has given better improvement with no adverse effects in the patient, it can be tried in large number of patients.


1997 ◽  
Vol 22 (12) ◽  
pp. 496-497
Author(s):  
Tejvir S. Khurana
Keyword(s):  

1994 ◽  
Vol 35 (6) ◽  
pp. 1031-1039
Author(s):  
K S Kim ◽  
S Kubota ◽  
M Kuriyama ◽  
J Fujiyama ◽  
I Björkhem ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document