POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Human Molecular Genetics

Volumn 23, Issue 21, 2014, Pages 5781-5792

  Di Costanzo, Stefania ^a   Balasubramanian, Anuradha ^b   Pond, Heather L ^a   Rozkalne, Anete ^b   Pantaleoni, Chiara ^c   Saredi, Simona ^c   Gupta, Vandana A ^b   Sunu, Christine M ^b   Yu, Timothy W ^b   Kang, Peter B ^b   Salih, Mustafa A ^d   Mora, Marina ^c   Gussoni, Emanuela ^b   Walsh, Christopher A ^b   Manzini, M Chiara ^a  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Fondazione Istituto di Ricerca e Cura a Carattere Scientifico   (Italy)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROGLYCAN; PROTEIN; PROTEIN O MANNOSE KINASE; UNCLASSIFIED DRUG; PROTEIN KINASE; SGK196 PROTEIN, HUMAN;

ADULT; ALLELE; ANIMAL TISSUE; ARTICLE; CASE REPORT; CELL INTERACTION; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; EMBRYO; EXTRACELLULAR MATRIX; FEMALE; FETUS; FETUS DEVELOPMENT; GENE EXPRESSION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LARVA; LIMB GIRDLE MUSCULAR DYSTROPHY; LOSS OF FUNCTION MUTATION; MALE; MUSCLE DEVELOPMENT; MUSCULAR DYSTROPHY; NONHUMAN; WALKER WARBURG SYNDROME; ZEBRA FISH; ADOLESCENT; AMINO ACID SEQUENCE; ANIMAL; BRAIN; CHEMISTRY; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; GENE SILENCING; GENETIC ASSOCIATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GLYCOSYLATION; METABOLISM; MOLECULAR GENETICS; MUTATION; NEUROMUSCULAR DISEASES; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; YOUNG ADULT;

DANIO RERIO;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BRAIN; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EXOME; FEMALE; GENE EXPRESSION; GENE KNOCKDOWN TECHNIQUES; GENE SILENCING; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; GLYCOSYLATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUSCLE DEVELOPMENT; MUTATION; NEUROMUSCULAR DISEASES; PEDIGREE; PHENOTYPE; PROTEIN KINASES; SEQUENCE ALIGNMENT; YOUNG ADULT; ZEBRAFISH;

EID: 84911435316     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu296     Document Type: Article

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