Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Neuromuscular Disorders

Volumn 25, Issue 7, 2015, Pages 533-541

  Savarese, Marco ^a,b   Di Fruscio, Giuseppina ^a,b   Tasca, Giorgio ^c   Ruggiero, Lucia ^d   Janssens, Sandra ^e   De Bleecker, Jan ^e   Delpech, Marc ^f   Musumeci, Olimpia ^g   Toscano, Antonio ^g   Angelini, Corrado ^h   Sacconi, Sabrina ⁱ   Santoro, Lucio ^d   Ricci, Enzo ^c   Claes, Kathleen ^e   Politano, Luisa ^b   Nigro, Vincenzo ^a,b  

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

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f Institut Cochin   (France)

^g UNIVERSITY OF MESSINA   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

Anoctamin; LGMD2L; Limb girdle muscular dystrophy; Muscular dystrophy; Next generation sequencing; NGS screening; Targeted resequencing

Indexed keywords

ADULT; ALLELE; ANO5 GENE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; AGED; COHORT ANALYSIS; DNA SEQUENCE; GENETICS; MIDDLE AGED; MUSCLE DISEASE; MUTATION; PHENOTYPE; YOUNG ADULT;

ANO5 PROTEIN, HUMAN; CHLORIDE CHANNEL;

ADULT; AGED; ALLELES; CHLORIDE CHANNELS; COHORT STUDIES; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84930536544     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.03.011     Document Type: Article

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