Subcellular compartmentalization of MBNL1 plays a key role in regulation of neurite differentiation and its disruption may contribute to CNS defects in DM.
The National Human Genome Research Institute has issued new funding opportunities for research targeted using a patient’s genomic information to inform clinical care.
When the 11th meeting of the International Myotonic Dystrophy Consortium (IDMC-11) met in San Francisco in September 2017, Dr. Giovanni Meola was in attendance, as he has been since the first biennial meeting in Paris, France, in 1997.
MDF is bidding a very fond farewell to John Porter, PhD, as MDF’s Chief Science Officer, and bidding a very warm hello to Elizabeth (Lisa) Ackermann, PhD.
Speech disorders (dysarthria) in CDM and childhood-onset DM1 have long been recognized and surveillance by speech and language therapists is an important aspect of patient care. Facial weakness and myotonia, and involvement of oral cavity, palatopharyngeal and respiratory muscles, are known to contribute to speech impairment.
As Matthew Brown listened to his cousin Emily describe the symptoms that led to doctors diagnosing her with having multiple sclerosis, he grew concerned. The problems she described—an inability to relax her hand, a freezing of her tongue that made it impossible to talk at times, and gastrointestinal issues—were the same ones he had been experiencing.
Chimeric proteins elucidate mechanisms of MBNL binding and regulation of alternative splicing, and suggest a path to optimize therapeutic strategies for DM.