A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients. The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities.
Laforêt
Pascal
P
Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. pascal.laforet@psl.ap-hop-paris.fr
Richard
Pascale
P
Said
Mina Ait
MA
Romero
Norma Beatriz
NB
Lacene
Emmanuelle
E
Leroy
Jean-Paul
JP
Baussan
Christiane
C
Hogrel
Jean-Yves
JY
Lavergne
Thomas
T
Wahbi
Karim
K
Hainque
Bernard
B
Duboc
Denis
D
D055372:AMP-Activated Protein Kinases; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D015444:Exercise; D006008:Glycogen Storage Disease / Q000235:genetics*; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D011392:Proline / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics
D009097:Multienzyme Complexes; D012694:Serine; D011392:Proline; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases