The detail information of Glycogen storage disease II
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: -

Considered a defect: yes

Year key mutation first reported: 2013

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB103 Finnish Lapphund 45.7-53.3 cm (male), 40.6-48.3 cm (female) 15-24 kg Finland
CB237 Swedish Lapphund 16-20 inches 30-45 pounds Sweden
Associated Gene
Symbol Description Species Position Other Links
GAA glucosidase, alpha; acid Canis lupus familiaris Chr9 : 2247757 - 2233266 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2013 Seppälä,E.H.,Reuser,A.J.,Lohi,H.: :
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013.
Pubmed reference: 23457621 . DOI: 10.1371/journal.pone.0056825 .
1993 Reuser,A.J.J.: :
Molecular Biology, Therapeutic Trials and Animal Models of Lysosomal Storage Diseases - Type-II Glycogenosis as an Example Annales de Biologie Clinique 51:218-219, 1993.
1985 Walvoort,HC.: :
Glycogen storage disease type II in the Lapland dog. Vet Q 7:187-90, 1985.
Pubmed reference: 3901497 .
1985 Walvoort,HC.,Dormans,JA.,vandenIngh,TS.: :
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985.
Pubmed reference: 3921759 .
1985 Walvoort,HC.,Koster,JF.,Reuser,AJ.: :
Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci 38:174-8, 1985.
Pubmed reference: 3923581 .
1984 Walvoort,HC.,Slee,RG.,Sluis,KJ.,Koster,JF.,Reuser,AJ.: :
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984.
Pubmed reference: 6391168 . DOI: 10.1002/ajmg.1320190323 .
1983 Walvoort,HC.: :
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983.
Pubmed reference: 6408305 .
1982 Walvoort,HC.,Slee,RG.,Koster,JF.: :
Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta 715:63-9, 1982.
Pubmed reference: 7041988 .
1970 Mostafa,I.E.: :
A case of glycogenic cardiomegaly in a dog Acta Veterinaria Scandinavica 11:197-208, 1970.
Pubmed reference: 5270856 .