Morphological changes in Late Onset Acid Maltase Deficient Patients with splicing gene mutation

Acta Myologica

Volumn 22, Issue DEC., 2003, Pages 90-96

  Angelini, Corrado ^a,c   Cenacchi, G ^b   Nascimbeni, A C ^a   Fulizio, L ^a  

^a VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Acid maltase; Glycogen storage disease II; Golgi apparatus proliferation

Indexed keywords

CAVEOLIN 3; DYSTROPHIN; ENZYME PRECURSOR; GLYCOGEN; LIPOFUSCIN;

ADULT; AGED; ARTICLE; CELL PROLIFERATION; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; GOLGI COMPLEX; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LYSOSOME; MALE; MORPHOLOGY; MUSCLE BIOPSY; MUSCLE CELL; ONSET AGE; PHENOTYPE; RNA SPLICING; SARCOLEMMA;

ACID PHOSPHATASE; ADULT; AGE OF ONSET; AGED; ALTERNATIVE SPLICING; BIOLOGICAL MARKERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN; GOLGI APPARATUS; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; LYSOSOMES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUTATION; SARCOLEMMA; TIME FACTORS; VACUOLES;

EID: 1542720564     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Hers HG. α-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochem J 1963;86:11-16.
2. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970;93:599-616.
3. Engel AG, Gomez MR, Seybold ME, et al. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973;23:95-100.
4. Angelini C, Engel AG. Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood and adult types. Arch Neurol 1972;26:344-9.
5. D'Ancona GG, Wurn J, Croce CM. Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17. Proc Natl Acad Sci USA 1979;76:4526-9.
6. Mehler M, Di Mauro S. Residual acid maltase activity in late-onset acid maltase deficiency. Neurology 1977;27:178-84.
7. Reuser AJJ, Kroos M, Willemsen R, et al. Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid alpha-glucosidase mutant fibroblasts. J Clin Invest 1987;79:1689-99.
8. Orth M, Mindegar RR. Effect of acid maltase deficiency at the endosomal/lysosomal system and glucose transporter 4. Neuromusc Disord 2003;13:49-54.
9. Engel AG, Dale JD. Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations. Mayo Clinic Proc 1968;43:233-79.
10. Boerkoel CF, Exelbert R, Nicastri C, et al. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet 1995;56:887-97.
11. Huie ML, Chen AS, Brooks SS, et al. A de novo 13 nt deletion, a newly identified C 647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Molec Genet 1994;3:1081-7.
12. Huie ML, Chen AS, Tsujino S, et al. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T>G) mutation in a majority of patients and a novel IVS10 (+1GT>CT) mutation. Hum Molec Genet 1994;3:2231-6.
13. Winkel LPF, Kamphoven JHJ, Van Den Hout HJMP, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003;27:743-51.