Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2851-2859

  Brockington, Martin ^a   Yuva, Yeliz ^a   Prandini, Paola ^a   Brown, Susan C ^a   Torelli, Silvia ^a,b   Benson, Matthew A ^c   Herrmann, Ralf ^d   Anderson, Louise V B ^e   Bashir, Rumaisa ^f   Burgunder, Jean Marc ^g   Fallet, Shari ^h   Romero, Norma ⁱ   Fardeau, Michel ⁱ   Straub, Volker ^d   Storey, Gillian ^f   Pollitt, Christine ^e   Richard, Isabelle ^f   Sewry, Caroline A ^a,j   Bushby, Kate ^e   Voit, Thomas ^d   Blake, Derek J ^c   Muntoni, Francesco ^a   more..

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f DURHAM UNIVERSITY   (United Kingdom)

^g UNIVERSITY OF BERN   (Switzerland)

^h CHILDREN S HOSPITAL OF NEW JERSEY   (United States)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; GLYCOSYLTRANSFERASE; MEROSIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARDIOMYOPATHY; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IMMUNOCYTOCHEMISTRY; LEG MUSCLE; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; MALE; MUSCLE HYPERTROPHY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; WALKING; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGE OF ONSET; BLOTTING, WESTERN; CALPAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; CYTOSKELETAL PROTEINS; DNA PRIMERS; DYSTROGLYCANS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT; LAMININ; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MICROSATELLITE REPEATS; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 18244375299     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
2. Non-sarcolemmal muscular dystrophies
3. Congenital muscular dystrophy
4. Congenital muscular dystrophy with merosin deficiency
5. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
6. Laminin α2 muscular dystrophy: Genotype/phenotype studies of 22 patients
7. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency
8. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain
9. Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy
10. Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy
11. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations
12. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
13. Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
14. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
15. The fukutin protein family-predicted enzymes modifying cell-surface molecules
16. Structure/function studies of glycosyltransferases
17. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
18. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2
19. Biosynthesis of dystroglycan: Processing of a precursor propeptide
20. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
21. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
22. Dystroglycan inside and out
23. Neural regulation of α-dystroglycan biosynthesis and glycosylation in skeletal muscle
24. Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse