CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Masashi Ogasawara(National Center of Neurology and Psychiatry), Ichizo Nishino(National Center of Neurology and Psychiatry)
Cited by 118
Related Papers
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
|Nature|2000|941
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
|Nature Genetics|1999|571
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
|Journal of Clinical Investigation|2009|393