-transparent.png){kind=logo}
A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. Post-mortem studies in several patients revealed changes of a congestive cardiomyopathy with myocardial fibrosis. Acid maltase, phosphorylase, debrancher and lysosomal enzyme screens, and glycolytic enzyme levels in skeletal muscle, were normal in 1 case. This is the third report of non-acid maltase deficient lysosomal glycogen storage disease and adds to previous reports with the presentation of detailed family studies, examined of ante- and post-mortem cardiac histology and reports of detailed glycolytic and lysosomal enzyme analysis. This syndrome is unusual among glycogenoses in having a dominant inheritance pattern.
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
January 1981,
Neurology,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
August 2001,
Journal of inherited metabolic disease,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
September 1993,
No to hattatsu = Brain and development,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
October 1998,
Journal of the neurological sciences,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
December 1995,
Nihon rinsho. Japanese journal of clinical medicine,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
July 1983,
Neurology,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
May 1994,
Neuromuscular disorders : NMD,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
July 1999,
Rinsho shinkeigaku = Clinical neurology,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
March 2000,
Rinsho shinkeigaku = Clinical neurology,
E Byrne, and
X Dennett, and
B Crotty, and
I Trounce, and
J M Sands, and
R Hawkins, and
J Hammond, and
S Anderson, and
E A Haan, and
A Pollard
January 2000,
Ryoikibetsu shokogun shirizu,
