Muscle fibrillin deficiency in Marfan's syndrome myopathy

Objective: To report a family with Marfan's syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Behan, W, Longman, C, Petty, R, Comeglio, P, Child, A, Boxer, M, Foskett, P, Harriman, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2003
Gaiak:
Paper
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1738457/
https://ncbi.nlm.nih.gov/pubmed/12700307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.74.5.633
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