A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
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Charcot-Marie-Tooth Disease↗
Biomedical subjects
A Lofgren
Publications and source records attributed to A Lofgren.
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
A family with a hereditary peripheral neuropathy is presented. Pedigree analysis suggested X-linked dominant mode of inheritance. The index patient became symptomatic at the age of 12 years. Clinical examination at 14 years revealed footdrop on the left, bilateral pes cavus, slight atrophy of thenar eminences, decreased muscle strength in both legs and brisk deep tendon reflexes. Electrophysiological studies were compatible with an axonal neuropathy. A novel point mutation located in codon 126 of the connexin32 gene, substituting a histidine for a tyrosine, was found in the index patient, in the mother, in two sisters and in a brother. The mother and the eldest sister had pes cavus bilaterally although they were asymptomatic. The younger brother and sister showed no signs of the disease.
Adolescent↗
Experimental tunneling ratchets
Adiabatically rocked electron ratchets, defined by quantum confinement in semiconductor heterostructures, were experimentally studied in a regime where tunneling contributed to the particle flow. The rocking-induced electron flow reverses direction as a function of temperature. This result confirms a recent prediction of fundamentally different behavior of classical versus quantum ratchets. A wave-mechanical model reproduced the temperature-induced current reversal and provides an intuitive explanation.
Journal Article↗