Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Acta Neuropathologica Communications

Volumn 2, Issue 1, 2014, Pages

  McKie, Arthur B ^a   Alsaedi, Atif ^b   Vogt, Julie ^c   Stuurman, Kyra E ^d   Weiss, Marjan M ^d   Shakeel, Hassan ^a   Tee, Louise ^b   Morgan, Neil V ^b   Nikkels, Peter G J ^f   van Haaften, Gijs ^f   Park, Soo Mi ^e   van der Smagt, Jasper J ^f   Bugiani, Marianna ^d   Maher, Eamonn R ^a,b,e,g  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Foetal akinesia; Multiple pterygium syndrome; Myopathy; RYR1 mutations

Indexed keywords

MICROSATELLITE DNA; RYANODINE RECEPTOR; STOP CODON;

COHORT ANALYSIS; CONGENITAL SKIN DISEASE; EMBRYOLOGY; FAMILY; FETUS; GENE DELETION; GENETIC LINKAGE; GENETICS; GERMLINE MUTATION; HUMAN; MALIGNANT HYPERTHERMIA; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE; STOP CODON;

ABNORMALITIES, MULTIPLE; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FETUS; GENETIC LINKAGE; GERM-LINE MUTATION; HUMANS; MALIGNANT HYPERTHERMIA; MICROSATELLITE REPEATS; MUSCLE, SKELETAL; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE DELETION; SKIN ABNORMALITIES;

EID: 84964697736     PISSN: None     EISSN: 20515960     Source Type: Journal    
DOI: 10.1186/s40478-014-0148-0     Document Type: Article

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