LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood

Human Mutation

Volumn 31, Issue 7, 2010, Pages

  Michot, Caroline ^a   Hubert, Laurence ^a   Brivet, Michèle ^b   De Meirleir, Linda ^c   Valayannopoulos, Vassili ^a   Müller Felber, Wolfgang ^d   Venkateswaran, Ramesh ^e   Ogier, Hélène ^f   Desguerre, Isabelle ^a   Altuzarra, Cécilia ^g   Thompson, Elizabeth ^h   Smitka, Martin ⁱ   Huebner, Angela ⁱ   Husson, Marie ^j   Horvath, Rita ^k,l   Chinnery, Patrick ^l   Vaz, Frederic M ^m   Munnich, Arnold ^a   Elpeleg, Orly ⁿ   Delahodde, Agnès ^o   De Keyzer, Yves ^a   De Lonlay, Pascale ^a   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b BICÊTRE HOSPITAL   (France)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^d UNIVERSITY OF MUNICH   (Germany)

^e NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g UNIVERSITY HOSPITAL OF BESANÇON   (France)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^j BORDEAUX UNIVERSITY HOSPITAL   (France)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

^m ACADEMIC MEDICAL CENTER   (Netherlands)

ⁿ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^o UNIVERSITÉ PARIS SACLAY   (France)

more..

Author keywords

Founder effect; Intragenic deletion; LPIN1; Rhabdomyolysis

Indexed keywords

COMPLEMENTARY DNA; DNA; GLYCEROL; LPIN1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PAH1 PROTEIN, S CEREVISIAE; PHOSPHATIDATE PHOSPHATASE; SACCHAROMYCES CEREVISIAE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FATTY ACID OXIDATION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENOMICS; HAPLOTYPE; HUMAN; LPIN1 GENE; MALE; MITOCHONDRIAL RESPIRATION; MYOGLOBINURIA; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RHABDOMYOLYSIS; SCHOOL CHILD; SKELETAL MUSCLE; FAMILY HEALTH; GENE FREQUENCY; GENETIC COMPLEMENTATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; GROWTH, DEVELOPMENT AND AGING; INFANT; MUTATION; PATHOLOGY; PHENOTYPE; SACCHAROMYCES CEREVISIAE; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHATIDATE PHOSPHATASE; RHABDOMYOLYSIS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; YOUNG ADULT;

EID: 77954095450     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21282     Document Type: Article

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