Novel Diagnostic Features of Dysferlinopathies

INTRODUCTION: Prior reports of dysferlinopathy suggest a clinically heterogeneous group of patients. We identified specific novel molecular and phenotypic features that help distinguish dysferlinopathies from other forms of limb-girdle muscular dystrophy (LGMD). METHODS: A detailed history, physical...

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Autori principali: Rosales, Xiomara Q., Gastier-Foster, Julie M., Lewis, Sarah, Vinod, Malik, Thrush, Devon L., Astbury, Caroline, Pyatt, Robert, Reshmi, Shalini, Sahenk, Zarife, Mendell, Jerry R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025537/
https://ncbi.nlm.nih.gov/pubmed/20544924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.21650
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