Crystal structure of a glycoside hydrolase family 68 β-fructosyltransferase from subsp. in complex with fructose.

An enzyme belonging to glycoside hydrolase family 68 (GH68) from subsp. NBRC 3744 was expressed in . Biochemical characterization showed that the enzyme was identified to be a β-fructosyltransferase (BiBftA).

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

A 26-year-old woman with psychomotor developmental delay since late infancy showed rapid deterioration of her psychomotor abilities at the 11 years of age. She had gained the ability to verbally express herself and perform motor activities such as running and dancing in early childhood, but she lost the ability to verbally communicate and was unable to walk independently after this period. She also presented with dystonia in the right extremities, which markedly fluctuated with a periodicity of hours to months.

Movement-related cortical potentials in myotonic dystrophy.

Objective: To investigate a possible deficit of the voluntary movement mechanism within the central nervous system (CNS) in patients with myotonic dystrophy (MyD).

Methods: Movement-related cortical potentials preceding voluntary extension of the right middle and index fingers were studied in 9 patients with MyD and compared with those in 11 age-matched healthy subjects and 9 age-matched patients with other neuromuscular disorders (NMDs).

Results: The amplitudes of Bereitschaftspotential was smaller in MyD patients than in age-matched controls and age-matched patients with other NMDs although there was no statistically significant difference.