Photo from academic.microsoft.com
Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due… Click to show full abstract
Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease‐causing variants, only a few additional patients have been reported.
Keywords:
cause centronuclear;
speg;
speg variant;
centronuclear myopathy;
novel speg;
variant cause
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!