Abstract:
:In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. The mutation destroys the high-consensus GT sequences at the 5' splice junction of the intron, which causes skipping of the preceding exon. This is the second molecular genetic defect identified in the myopathic variant of PhK deficiency.
journal_name
Biochem Biophys Res Communjournal_title
Biochemical and biophysical research communicationsauthors
Bruno C,Manfredi G,Andreu AL,Shanske S,Krishna S,Ilse WK,DiMauro Sdoi
10.1006/bbrc.1998.9211subject
Has Abstractpub_date
1998-08-28 00:00:00pages
648-51issue
3eissn
0006-291Xissn
1090-2104pii
S0006-291X(98)99211-7journal_volume
249pub_type
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