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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 novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
TLDR
A Caucasian Brazilian family with 26 members distributed in three generations affected by a late onset autosomal dominant motor neurone disease is reported, and clinical and neurological examination of 11 living members was compatible with the diagnosis.
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
TLDR
A homozygous mutation in the delta SG 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.
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.
Caveolin-3 in muscular dystrophy.
TLDR
It is shown that caveolin-3 co-purifies with dystrophin, and that a fraction of caveolin -3 is a dyStrophin-associated protein, suggesting that these are not benign polymorphisms and instead are disease-causing mutations.
Approach to the diagnosis of congenital myopathies
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.
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
TLDR
This review will focus on the most recent data in the field and on the own experience of more than 200 patients studied with autosomal recessive-limb-girdle muscular dystrophy, classified from calpainopathy to telethoninopathy.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
TLDR
A novel association between a muscular disorder and a RNA-related gene is presented and the importance of RNA binding/processing proteins in muscle development and muscle disease is reinforced.
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