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Example sentences for: lgmd

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1 and 1q12, respectively [ 8 ] . These loci overlap with the genomic regions containing the genes for amyotrophic lateral sclerosis 5 (ALS5) and limb girdle muscular dystrophy 1B (LGMD1B), respectively [ 22 23 ] . We characterized these tropomodulin genomic loci for use in mutational analysis.
Sarcospan is most tightly associated with the transmembrane sarcoglycan subcomplex, mutation of which causes autosomal recessive limb girdle muscular dystrophy (LGMD2C-2F) [ 7, 8, 9, 10, 11].
LGMD, limb Girdle muscular dystrophy
Sarcospan immunoreactivity is altered in both Duchenne Muscular Dystrophy and the sarcoglycanopathies (LGMD2C-F) and appears to be very sensitive to disturbances in the dystrophin associated protein complex [ 16].
During the course of this study, the gene mutated in LGMD1B was identified as Lamin A/C [ 24 ] . Our investigation, however, revealed that an unrelated gene, YL-1, intergenically spliced into TMOD4 . YL-1 is a putative transformation suppressor gene that localizes to the nucleus and binds to DNA [ 25 26 ] . YL-1 is organized into six exons and produces several alternatively spliced transcripts using both intergenic and cryptic splicing.