A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Here...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Ziyaee, Fateme, Shorafa, Eslam, Dastsooz, Hassan, Habibzadeh, Parham, Nemati, Hamid, Saeed, Amir, Silawi, Mohammad, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali, Dastgheib, Seyed Alireza
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6332642/
https://ncbi.nlm.nih.gov/pubmed/30642275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0743-1
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