Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?

American Journal of Medical Genetics

Volumn 62, Issue 4, 1996, Pages 365-371

  Crisponi, Giangiorgio ^a,b  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Istituto di Biologia Generale   (Italy)

Author keywords

camptodactyly; GABA receptor; hereditary stiff baby syndrome; hyperekplexia; Isaacs Mertens syndrome; muscle contractions; startle disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAMPTODACTYLY; CLINICAL ARTICLE; DISEASE COURSE; DYSTONIA; FACE MALFORMATION; FACE MUSCLE; FEMALE; GRAND MAL SEIZURE; HUMAN; HYPERTHERMIA; MALE; MUSCLE CONTRACTION; NEWBORN; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SUDDEN DEATH; SYNDROME; TETANUS;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DEATH, SUDDEN; FACIAL MUSCLES; FATAL OUTCOME; FEMALE; FEVER; FINGERS; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE CONTRACTION; MUSCULAR DISEASES; PEDIGREE; SALIVATION; SYNDROME; TETANUS; TRISMUS;

EID: 0029983913     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q     Document Type: Article

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