Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family
10.1016/j.nmd.2007.09.011
Saved in:
Main Authors: | Pica, E.C., Kathirvel, P., Pramono, Z.A.D., Lai, P.-S., Yee, W.-C. |
---|---|
Other Authors: | PAEDIATRICS |
Format: | Article |
Published: |
2014
|
Subjects: | |
Online Access: | http://scholarbank.nus.edu.sg/handle/10635/107499 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | National University of Singapore |
Similar Items
-
Two desmin gene mutations associated with myofibrillar myopathies in Polish families
by: Fichna J.P., et al.
Published: (2019) -
A dysfunctional desmin mutation in a patient with severe generalized myopathy
by: Munoz-Marmol, Ana M., et al.
Published: (2012) -
Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
by: McDonald K.K., et al.
Published: (2019) -
A zebrafish model for a human myopathy associated with mutation of the unconventional myosin MYO18B
by: Gurung, Ritika, et al.
Published: (2019) -
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
by: Jariya Waisayarat, et al.
Published: (2017)