Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome

Journal of the Neurological Sciences

Volumn 160, Issue 2, 1998, Pages 175-179

  Morisawa, Yutaka ^a,b   Fujieda, Mikiya ^b   Murakami, Nobuyuki ^b,c   Naruse, Keishi ^b   Okada, Taisuke ^b   Morita, Hideo ^a   Sawada, Kei ^a   Miyazaki, Jun Ichi ^a   Kurashige, Takanobu ^b   Nonaka, Ikuya ^c  

^a Kochi Pref Seinan Hosp Nakamura   (Japan)

^b KOCHI MEDICAL SCHOOL   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Cardiomyopathy; Complement membrane attack complex; Early infantile death; Vacuolar myopathy

Indexed keywords

ACID PHOSPHATASE; COMPLEMENT MEMBRANE ATTACK COMPLEX; GLUCAN 1,4 ALPHA GLUCOSIDASE; LYSOSOME ENZYME;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; ELECTRON MICROSCOPY; HEART FAILURE; HUMAN; INFANT; INFANT MORTALITY; LYSOSOME STORAGE DISEASE; MALE; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE;

BIOLOGICAL MARKERS; CARDIOMYOPATHIES; FATAL OUTCOME; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; MALE; MICROSCOPY, ELECTRON; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOCARDIUM;

EID: 0032497569     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00242-1     Document Type: Article

References (8)

1. Danon M.J., Oh S.J., DiMauro S.et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 31:1981;51-57.
2. Hart Z.H., Servidei S., Peterson P.L., Chang C.H., DiMauro S. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Neurology. 37:1987;1065-1068.
3. Kashino N., Usuki F., Akamine T.et al. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy: abnormal MRI findings in the head. J Neurol Sci. 105:1991;1-5.
4. Muntoni F., Catani G., Mateddu A.et al. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. Neuromuscul Disord. 4:1994;233-241.
5. Murakami N., Goto Y., Itoh M.et al. Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. Neuromuscul Disord. 5:1995;149-155.
6. Murakami N., Ishiguro K., Ihara Y.et al. Tau protein immunoreactivity in muscle fibers with rimmed vacuoles differs from that in regenerating muscle fibers. Acta Neuropathol. 90:1995;467-471.
7. Riggs J.E., Schochet S.S., Gutmann L., Shanske S., Neal W.A., DiMauro S. Lysosomal glycogen storage disease without acid maltase deficiency. Neurology. 33:1983;873-877.
8. Villanova M., Louboutin J.P., Chateau D., Eymard B., Sagniez T.F.M.S., Fardeau M. X-inked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann Neurol. 37:1995;637-645.