title: Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Sevy
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Cerino
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Gorokhova
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Eugénie
authors.initials: E
authors.lastname: Dionnet
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Mathieu
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France.
authors.forename: Annie
authors.initials: A
authors.lastname: Verschueren
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Franques
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Department of Anatomopathology, La Timone University Hospital, Marseille, France.
authors.forename: André
authors.initials: A
authors.lastname: Maues de Paula
authors.affiliation: APHM, Department of Anatomopathology, La Timone University Hospital, Marseille, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Figarella-Branger
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lagarde
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Desvignes
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Shahram
authors.initials: S
authors.lastname: Attarian
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Bartoli
authors.affiliation: Aix Marseille Université, INSERM, GMGF, Marseille, France APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Campana-Salort
authors.affiliation: APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Pouget
mesh_terms: D016022:Case-Control Studies; D049310:Distal Myopathies / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation
keywords: MYOPATHY; NEUROGENETICS; NEUROMUSCULAR