Open AccessPhenotypic Study in 40 Patients With Dysferlin Gene Mutations
Author(s) -
Karine Nguyen,
Guillaume Bassez,
Martin Krahn,
Rafaëlle Bernard,
Pascal Laforêt,
Véronique Labelle,
Jon Andoni Urtizberea,
Dominique FigarellaBranger,
Norma B. Romero,
Shahram Attarian,
France Leturcq,
Jean Pouget,
Nicolas Lévy,
B. Eymard
Publication year - 2007
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.64.8.1176
Subject(s) - dysferlin , limb girdle muscular dystrophy , muscular dystrophy , myopathy , phenotype , medicine , pathology , genetics , biology , gene
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency.
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