First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

Neuromuscular Disorders

Volumn 19, Issue 10, 2009, Pages 680-684

  Monnier, Nicole ^a,b   Laquerrière, Annie ^c   Marret, Stéphane ^c   Goldenberg, Alice ^c   Marty, Isabelle ^b   Nivoche, Yves ^d   Lunardi, Joël ^a,b  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^c ROUEN UNIVERSITY HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Genomic rearrangement; Lethal neonatal hypotonia; RYR1 gene

Indexed keywords

ALPHA ACTININ; CALCIUM CHANNEL; DESMIN; DNA; DYSTROGLYCAN; DYSTROPHIN; LAMININ ALPHA2; RYANODINE RECEPTOR 1; SARCOGLYCAN; SPECTRIN; VIMENTIN;

ARTICLE; CASE REPORT; DISEASE SEVERITY; DNA EXTRACTION; DOMINANT INHERITANCE; ELECTROMYOGRAPHY; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANTILE HYPOTONIA; MALE; MUSCLE BIOPSY; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKELETAL MUSCLE;

BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON; MUSCLE HYPOTONIA; MUSCLES; MUSCULAR DISEASES; MUTATION; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE DELETION;

EID: 70349240208     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.07.007     Document Type: Article

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