MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Journal of Medical Genetics

Volumn 41, Issue 2, 2004, Pages 125-129

  Szigeti, K ^a   Wong, L J C ^b   Perng, C L ^b   Saifi, G M ^a   Eldin, K ^a   Adesina, A M ^a   Cass, D L ^a   Hirano, M ^c   Lupski, J R ^a,d   Scaglia, F ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c College of Physicians and Surgeons ^*  (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CLINICAL TRIAL; CONGENITAL MALFORMATION; DIAGNOSTIC IMAGING; DISEASE ACTIVITY; DISEASE COURSE; ENZYME ACTIVITY; FATALITY; GASTROINTESTINAL MYOPATHY; GASTROINTESTINAL TRACT; GENE MUTATION; GENETIC ANALYSIS; GENETICS; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INTESTINE PSEUDOOBSTRUCTION; LABORATORY TEST; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MNGIE SYNDROME; MOLECULAR GENETICS; MORPHOLOGY; MULTICENTER STUDY; MUTATION; MYOPATHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PARENTERAL NUTRITION; PATHOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; RNA SPLICING; SKELETAL MUSCLE;

RODENTIA;

EID: 10744222409     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.013789     Document Type: Article

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