Clinical massively parallel sequencing for the diagnosis of myopathies

Revue Neurologique

Volumn 171, Issue 6-7, 2015, Pages 558-571

  Gorokhova, S ^a   Biancalana, V ^b,c   Levy N ^a,d   Laporte, J ^c   Bartoli, M ^a,d   Krahn, M ^a,d  

^a AIX MARSEILLE UNIVERSITY   (France)

^b HÔPITAL CIVIL   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d TIMONE HOSPITAL   (France)

Author keywords

Exome; Genetic testing; Genome; High throughput DNA sequencing; Massively parallel sequencing; Medical genetics; Muscular diseases; Mutation; Myopathy; Next generation sequencing

Indexed keywords

CONNECTIN; DNA; GENOMIC DNA;

CENTRONUCLEAR MYOPATHY; CLINICAL PRACTICE; COBBLESTONE LISSENCEPHALY; DNA SEQUENCE; EXOME; EXON; GENE; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; HACD1 GENE; HEART MUSCLE CONDUCTION DISTURBANCE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HUMAN; INDEL MUTATION; INTRON; ISPD GENE; KLHL40 GENE; KLHL41 GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; LRP4 GENE; MASSIVELY PARALLEL SEQUENCING; MEGF10 GENE; MICU1 GENE; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; NEMALINE MYOPATHY; NEUROLOGIST; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENICITY; REVIEW; STIM1 GENE; TRAPPC11 GENE; WALKER WARBURG SYNDROME; GENETICS; MUSCULAR DISEASES;

EXOME; GENOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUSCULAR DISEASES;

EID: 84932194965     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2015.02.019     Document Type: Article

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