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Article

Novel diagnostic features of dysferlinopathies.

Muscle & nerve - 1 Jul 2010

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

Abstract excerpt

Reports of dysferlinopathy have suggested 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). A detailed history, physical exam, and protein and mutation analysis of genomic DNA was done for all subjects. Five of 21 confirmed DYSF gene mutations were not...

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Identifiers

PMID: 20544924
DOI: 10.1002/mus.21650
PMCID: PMC3025537

Genes

DYSF

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