Next generation sequencing (NGS) strategies for the genetic testing of myopathies

Acta Myologica

Volumn 31, Issue 3, 2012, Pages 196-200

  Nigro, Vincenzo ^a,b   Piluso, Giulio ^a,b  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Neuromuscular disorders; Next generation sequencing; NGS

Indexed keywords

DNA FRAGMENT; DYSTROPHIN;

ARTICLE; CANCER GENETICS; CANCER SUSCEPTIBILITY; CENTRONUCLEAR MYOPATHY; CONGENITAL MUSCULAR DYSTROPHY DYSTROGLYCANOPATHY WITH BRAIN AND EYE ANOMALY TYPE A7; COST BENEFIT ANALYSIS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; EARLY ONSET MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS AND DYSPHAGIA; EXOME; EXON; FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 2; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRAIT; GENETIC VARIABILITY; GENOME; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HIGH THROUGHPUT SEQUENCING; HUMAN; INHERITANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MENDELIAN RANDOMIZATION ANALYSIS; MUSCULAR DYSTROPHY; MYOPATHY; NEXT GENERATION SEQUENCING; NONHUMAN; DNA SEQUENCE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENETICS; METHODOLOGY; MUSCLE DISEASE; NEUROMUSCULAR DISORDERS; NGS;

NEUROMUSCULAR DISORDERS; NEXT GENERATION SEQUENCING; NGS;

DYSTROPHIN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUSCULAR DISEASES; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; SEQUENCE ANALYSIS, DNA;

MLCS; MLOWN;

EID: 84879328884     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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