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- W2053846799 abstract "Background: McArdle disease is an autosomal recessive disorder characterized by exercise intolerance, myalgia, and cramps. Recently, cDNA studies revealed that mutations in non-coding regions could be the underlying cause of an alteration in mRNA splicing, including activation of cryptic splice sites, exon–intron reorganizations and exon deletions. Objectives: To analyze the non-coding regions of PYGM gene without recognized function in two previously thought to be manifesting heterozygous patients using a transcript approach. Methods: PYGM gene mutations were identified by PCR-RFLP and sequencing using intronic primers. To characterize abnormalities in RNA processing, muscle total RNA was reversely-transcribed by RT-PCR to first-strand cDNA, subsequently the PYGM-cDNA was amplified in two overlapped fragments and subcloned into pGEM-T Easy vector. Clones were sequenced. Results and conclusions: In patient 1, mutational analysis showed the presence of a heterozygous G205S, and a novel heterozygous nucleotide change, c.529-8 g>a, which was located in a non-conserved region of consensus splice sequence of intron 4. In patient 2 only one mutant allele was identified (R50X mutation). The analysis of cDNA showed that the c.529-8 g>a mutation caused a retention of 6 nucleotides in the coding region from the intron 4, predicting the insertion of two aminoacids residues in the protein (”in frame” mutation). In patient 2 a heterozygous deletion of exon 17 was observed in the cDNA. As this mutation was not detected by genomic DNA (gDNA) sequencing, we mapped the deletion, demonstrating that it was originated by a deletion of 1094 pb including intronic regions. Novel mutations were not observed in 100 controls. cDNA instead of gDNA studies allow the characterization of the two mutants alleles in manifesting heterozygotes by means of the identification of undetected mutations or demonstrating the effects at the transcription level of mutations in non-coding regions." @default.
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- W2053846799 date "2007-10-01" @default.
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- W2053846799 title "M.P.4.03 Transcript analysis for molecular characterization of “manifesting heterozygotes” patients with McArdle disease" @default.
- W2053846799 doi "https://doi.org/10.1016/j.nmd.2007.06.329" @default.
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