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The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex;(More)
Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a distal muscular dystrophy, are both caused by mutations in the recently cloned gene dysferlin, gene symbol DYSF. Two large pedigrees have been described which have both types of patient in the same families. Moreover, in both pedigrees LGMD2B and MM patients are homozygous for(More)
The concatenative real-time sound synthesis system CataRT plays grains from a large corpus of segmented and descriptor-analysed sounds according to proximity to a target position in the descriptor space. This can be seen as a content-based extension to granular synthesis providing direct access to specific sound characteristics. CataRT is implemented as a(More)
Corpus-based concatenative synthesis plays grains from a large corpus of segmented and descriptor-analysed sounds according to proximity to a target position in the descrip-tor space. This can be seen as a content-based extension to granular synthesis providing direct access to specific sound characteristics. The interactive concatenative sound synthesis(More)
Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy (MM). This is of interest because these diseases have been considered as two distinct clinical conditions since different muscle groups are the initial targets. Dysferlin, the protein product of the(More)
OBJECTIVE Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutational screening and a survey of clinical features in 21(More)
Dysferlin, the protein product of the gene mutated in patients with an autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) and a distal muscular dystrophy, Miyoshi myopathy, is homologous to a Caenorhabditis elegans spermatogenesis factor, FER-1. Analysis of fer-1 mutants and of sequence predictions of the FER-1 and dysferlin ORFs has(More)
Corpus-based concatenative synthesis (CBCS) builds on a large database of segmented and descriptor-analysed sounds that are selected and played according to proximity to a target position in the descriptor space. This can be seen as a content-based extension to granular synthesis providing direct access to specific sound characteristics in real-time. The(More)
During 1974-1977, 158 infants of birth weights less than 801 gm were referred from outlying hospitals. The survival rate was 25% for the whole group and 35% for those weighing 700 to 800 gm. Many were in a poor condition on arrival. One hundred and nineteen died. The most common causes of death were intracranial hemorrhage (39), RDS (26), and infection(More)