Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Neuromuscular Disorders

Volumn 20, Issue 1, 2010, Pages 57-60

  Wein, N ^a   Krahn, M ^a,b   Courrier, S ^a,c   Bartoli, M ^a   Salort Campana, E ^d   Nguyen, K ^b   Fernandez, C ^b   Pouget, J ^a,d   Fossat, C ^b   Depetris, D ^a   Leturcq, F ^e   Cau, P ^a,b   Levy, N ^a,b,c  

^a INSERM   (France)

^b TIMONE HOSPITAL   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d Centre de Référence des Maladies Neuromusculaires Marseille   (France)

^e Hôpital Cochin ^*  (France)

Author keywords

Diagnostic test assessment; Dysferlinopathies; Flow cytometry; Monocytes

Indexed keywords

DYSFERLIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DYSFERLINOPATHY; FLOW CYTOMETRY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; MISSENSE MUTATION; MONOCYTE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; WESTERN BLOTTING;

EID: 74349098284     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.08.004     Document Type: Article

References (8)

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2. Liu J., Aoki M., Illa I., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20 (1998) 31-36
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8. Krahn M., Beroud C., Labelle V., et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 30 (2009) E345-E375