Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

Neurology

Volumn 74, Issue 2, 2010, Pages 157-164

  Lommel, M ^a   Cirak, S ^b   Willer, T ^a,i   Hermann, R ^c   Uyanik, G ^d   Van Bokhoven, H ^e   Korner C ^f   Voit, T ^c,j   Baric I ^g   Hehr, U ^h   Strahl, S ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g UNIVERSITY OF ZAGREB   (Croatia)

^h Center for Human Genetics   (Germany)

ⁱ UNIVERSITY OF IOWA   (United States)

^j SORBONNE UNIVERSITÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA DYSTROGLYCAN; LEUCINE; MANNOSYLTRANSFERASE; MUTANT PROTEIN; PROTEIN O MANNOSYLTRANSFERASE 1; UNCLASSIFIED DRUG; VALINE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE SEVERITY; DYSTROGLYCANOPATHY; ENZYME ACTIVITY; FIBROBLAST; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SCHOOL CHILD; SYMPTOM; WALKER WARBURG SYNDROME;

EID: 75649107264     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c919d6     Document Type: Article

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