Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 87, Issue 3, 2016, Pages 340-342

  Sevy, Amandine ^a,b   Cerino, Mathieu ^a,b   Gorokhova, Svetlana ^b   Dionnet, Eugénie ^b   Mathieu, Yves ^b   Verschueren, Annie ^a   Franques, Jérôme ^a   De Paula, André Maues ^a,b   Figarella Branger, Dominique ^a   Lagarde, Arnaud ^b   Desvignes, Jean Pierre ^b   Béroud, Christophe ^a,b   Attarian, Shahram ^a,b   Levy, Nicolas ^a,b   Bartoli, Marc ^a,b   Krahn, Martin ^a,b   Campana Salort, Emmanuelle ^a,b   Pouget, Jean ^a,b  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3;

CAPN3 GENE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISTAL MYOPATHY; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PREDICTION; PRIORITY JOURNAL; PROCESS OPTIMIZATION; SEQUENCE ANALYSIS; CASE CONTROL STUDY; DISTAL MYOPATHIES; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

CASE-CONTROL STUDIES; DISTAL MYOPATHIES; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION;

EID: 84964323956     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-309663     Document Type: Letter

References (5)

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2. Vasli N, Böhm J, Le Gras S, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012;124:273-83.
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4. Toro C, Olivé M, Dalakas MC, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neuro 2013;13:29.
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