Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 883-886

  O'Grady, Gina L ^a,b   Best, Heather A ^a,b   Oates, Emily C ^a,b   Kaur, Simranpreet ^a   Charlton, Amanda ^a   Brammah, Susan ^c   Punetha, Jaya ^d   Kesari, Akanchha ^d   North, Kathryn N ^a,b,e,f   Ilkovski, Biljana ^a,b   Hoffman, Eric P ^d   Clarke, Nigel F ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ANZAC Research Institute   (Australia)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; CREATINE KINASE; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; ACTIN;

ACTIN FILAMENT; ADULT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HINGE REGION; HISTOLOGY; HOMOZYGOTE; HUMAN; LUNG CAPACITY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; WEAKNESS; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; MYOPATHIES, STRUCTURAL, CONGENITAL; PATHOLOGY; RECESSIVE GENE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE;

ACTINS; ADULT; AMINO ACID SEQUENCE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; SPINE;

EID: 84929240566     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.169     Document Type: Article

References (8)

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