A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.

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.

authors

Bruno C,Manfredi G,Andreu AL,Shanske S,Krishna S,Ilse WK,DiMauro S

doi

10.1006/bbrc.1998.9211

subject

Has Abstract

pub_date

1998-08-28 00:00:00

pages

648-51

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(98)99211-7

journal_volume

249

pub_type

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