Kumiko Murayama

TL;DR: The hypothesis that one function of dysferlin may be to interact with caveolin-3 to subserve signaling functions of caveolae is suggested.

TL;DR: The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed in this paper, which revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2.

TL;DR: DMRV is allelic to HIBM, an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles and various mutations are associated with DMRV in Japan.

TL;DR: The results indicate that CCD may be caused by RYR1 mutations in the majority of patients, and sequenced all the 106 exons encoding RYP1 with their flanking exon-intron boundaries, and identified 20 novel and 3 previously reported heterozygous missense mutations in 25 of the 27 CCD patients.

TL;DR: The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.