Words similar to lgmd

Example sentences for: lgmd

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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].
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.
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.
Patients with autosomal dominant limb girdle muscular dystrophy type 1C, caused by mutations in caveolin-3 [ 19, 20], or autosomal recessive LGMD2B, caused by mutations in dysferlin, show normal dystrophin and sarcoglycan-sarcospan complex staining patterns [ 21].
LGMD, limb Girdle muscular dystrophy