Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A

BACKGROUND: Limb girdle muscular dystrophy type 2A (LGMD2A) is characterised by wide variability in clinical features and rate of progression. Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense mutations or compound heterozygote mutations) prognosi...

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Autori principali: Fanin, M, Nardetto, L, Nascimbeni, A C, Tasca, E, Spinazzi, M, Padoan, R, Angelini, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2007
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597960/
https://ncbi.nlm.nih.gov/pubmed/17526799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050328
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