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

C Bruno; G Manfredi; A L Andreu; S Shanske; S Krishna; W K Ilse; S DiMauro

doi:10.1006/bbrc.1998.9211

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

Biochem Biophys Res Commun. 1998 Aug 28;249(3):648-51. doi: 10.1006/bbrc.1998.9211.

Authors

C Bruno¹, G Manfredi, A L Andreu, S Shanske, S Krishna, W K Ilse, S DiMauro

Affiliation

¹ H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia College of Physicians and Surgeons, New York, New York 10032, USA.

PMID: 9731190
DOI: 10.1006/bbrc.1998.9211

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
DNA / genetics
DNA Primers / genetics
Exercise Tolerance
Humans
Introns
Male
Muscles / enzymology
Muscular Diseases / enzymology*
Muscular Diseases / genetics*
Muscular Diseases / physiopathology
Myoglobinuria / enzymology
Myoglobinuria / genetics
Phosphorylase Kinase / chemistry
Phosphorylase Kinase / deficiency*
Phosphorylase Kinase / genetics*
Point Mutation*
Polymerase Chain Reaction
Protein Conformation
RNA Splicing / genetics*

Substances

DNA Primers
DNA
Phosphorylase Kinase