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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
TLDR
It is found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
TLDR
Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology.
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
TLDR
A homozygous mutation in the δSG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F, a heterogeneous group of inherited neuromuscular disorders characterized by proximal muscular weakness of the pelvic and shoulder girdles and a variable progression with symptoms.
A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.
TLDR
Results together with the observation that residue 104 is evolutionary conserved lead to propose that the DNA segment containing this residue might contain a novel interaction site to a yet unknown receptor and the presence of N104 impairs the function of endostatin.
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
TLDR
It is suggested that this form of muscular dystrophy, which, interestingly, clinically resembles AR Kugelberg-Welander disease, should be classified as LGMD2G, and the results indicate the existence of still another locus causing severe LGMD.
Dysferlin protein analysis in limb-girdle muscular dystrophies
TLDR
Dysferlin deficiency was found in 24 out of a total of 166 Brazilian AR-LGMD families screened for muscle proteins, thus representing the second most frequent known LGMD form, after calpainopathy, in the population.
Telethonin protein expression in neuromuscular disorders.
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy
TLDR
Through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, the prevalence of copy number variations located at 15q11-q13, 16p11.2 and 22q13 in Brazilian ASD- affected individuals is comparable to that estimated for ASD- unaffected individuals of pure or predominant European ancestry.
Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family
TLDR
The normal expression of the other three SG proteins suggests that mutations close to the α‐SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention.
Deficiency of α-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy
TLDR
Results show that the deficiency of ACTN3 is a secondary effect in these dystrophies of unknown etiology, and patients within the same family, and with the same disease, were discordant forACTN3 deficiency.
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