Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Annals of Neurology

Volumn 53, Issue 4, 2003, Pages 537-542

  Mercuri, Eugenio ^a,b,g   Brockington, Martin ^a   Straub, Volker ^c   Quijano Roy, Susana ^d   Yuva, Yeliz ^a   Herrmann, Ralf ^c   Brown, Susan C ^a   Torelli, Silvia ^a   Dubowitz, Victor ^a   Blake, Derek J ^e   Romero, Norma B ^f   Estournet, Brigitte ^d   Sewry, Caroline A ^a   Guicheney, Pascale ^f   Voit, Thomas ^c   Muntoni, Francesco ^a  

^a Dubowitz Neuromuscular Centre   (United Kingdom)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BIRTH; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; FUKUTIN RELATED PROTEIN GENE; GENE; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MOBILIZATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STANDING;

ADOLESCENT; ADULT; AGE OF ONSET; BIOPSY; BRAIN; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; FEMALE; HUMANS; HYPOVENTILATION; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION, MISSENSE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PROTEINS; SEVERITY OF ILLNESS INDEX; VENTRICULAR DYSFUNCTION, LEFT;

EID: 0037380737     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10559     Document Type: Article

References (10)

1. Brockington M, Blake DJ, Prandini P, et al Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Genet 2001;69:1198-1209.
2. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001;10:2851-2859.
3. Driss A, Amouri R, Ben Hamida C, et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromusc Disord 2000;10:240-246.
4. Dubowitz V. Muscle biopsy: a practical approach. 2nd ed. London: Bailliere Tindall, 1985.
5. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995;5: 301-305.
6. Brockington M, Sewry CA, Herrmann R, et al. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet 2000; 66:428-435.
7. Muntoni F, Guicheney P. 85th ENMC International Workshop on Congenital Muscular Dystrophy. Paper presented at: Sixth International CMD Workshop; 2000; Naarden, The Netherlands. Neuromuscul Disord 2002;2:69-78.
8. Fukuyama Y, Osawa M, Saito K, editors. Congenital muscular dystrophies. Tokyo: Elsevier, 1997.
9. Mercuri E, Muntoni F. Congenital muscular dystrophy. In: Emery A, ed. Muscular dystrophies. Oxford, UK: Oxford University Press, 2001.
10. Villanova M, Mercuri E, Bertini E, et al. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromusc Disord 2000;10:541-547.