Novel autophagic vacuolar myopathies: Phenotype and genotype features,Neuropathology and Applied Neurobiology

当前位置： X-MOL 学术 › Neuropathol. Appl. Neurobiol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Novel autophagic vacuolar myopathies: Phenotype and genotype features
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-01-04 , DOI: 10.1111/nan.12690
Filomena Napolitano _{1,

2} , Chiara Terracciano _{1,

3} , Giorgia Bruno ₁ , Paolo De Blasiis ₁ , Luca Lombardi ₁ , Alessandro Gialluisi ₄ , Fernando Gianfrancesco ₂ , Donatella De Giovanni ₅ , Albina Tummolo ₅ , Giuseppe Di Iorio ₁ , Giuseppe Limongelli ₆ , Teresa Esposito _{2,

4} , Mariarosa Anna Beatrice Melone _{1,

7} , Simone Sampaolo ₁

Affiliation

Autophagic vacuolar myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α-glucosidase (GAA) deficiency is the best-characterised AVM.

中文翻译：