TY - JOUR
T1 - Reports
T2 - Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit
AU - Wehner, Michael
AU - Clemens, Paula R.
AU - Engel, Andrew G.
AU - Killmann, Manfred W.
PY - 1994/11/1
Y1 - 1994/11/1
N2 - Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of Inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adultonset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle Isoform of the α subunit (αM), a muscle-specifically expressed exon of the β subunit, and the muscle Isoform of the y subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in αM. The condition of this patient therefore is a human homolog of the Xlinked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation.
AB - Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of Inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adultonset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle Isoform of the α subunit (αM), a muscle-specifically expressed exon of the β subunit, and the muscle Isoform of the y subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in αM. The condition of this patient therefore is a human homolog of the Xlinked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation.
UR - http://www.scopus.com/inward/record.url?scp=0027938957&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027938957&partnerID=8YFLogxK
U2 - 10.1093/hmg/3.11.1983
DO - 10.1093/hmg/3.11.1983
M3 - Article
C2 - 7874115
AN - SCOPUS:0027938957
VL - 3
SP - 1983
EP - 1987
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 11
ER -