Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

Journal of Medical Genetics

Volumn 34, Issue 6, 1997, Pages 470-475

  Carrie A ^a   Piccolo, F ^a   Leturcq, F ^a   De Toma, C ^a   Azibi, K ^a,b   Beldjord, C ^a   Vallat, J M ^c   Merlini, L ^d   Voit, T ^e   Sewry, C ^f   Urtizberea, J A ^g   Romero, N ^h   Tome F M S ⁱ   Fardeau, M ⁱ   Sunada, Y ^j   Campbell, K P ^j   Kaplan, J C ^a   Jeanpierre, M ^a  

^a Université Paris V ^*  (France)

^b Service d'Endocrinologie   (Algeria)

^c Service de Neurologie   (France)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^e Department of Paediatrics ^*  (Germany)

^f HAMMERSMITH HOSPITAL   (United Kingdom)

^g AFM   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j UNIVERSITY OF IOWA   (United States)

more..

Author keywords

sarcoglycan gene; LGMD2D; Muscular dystrophy

Indexed keywords

ADHALIN; ALPHA SARCOGLYCAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 13Q; CHROMOSOME 17Q; CHROMOSOME 4Q; CHROMOSOME 5Q; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; PREVALENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SARCOLEMMA;

BASE SEQUENCE; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; POINT MUTATION; SARCOGLYCANS;

EID: 16944365227     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993;268:23739-42.
2. Fardeau M, Matsumura K, Tome FMS, et al. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci III 1993;316:799-804.
3. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66:1121-31.
4. Yamamoto H, Hagiwara Y, Mizuno Y, Yoshida M, Ozawa E. Heterogeneity of dystrophin-associated proteins. J Biochem 1993;112:132-9.
5. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983;6:469-80.
6. Matsumura K, Tomé FMS, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992;359:320-2.
7. Bushby KMD, Beckmann JS. The limb-girdle muscular dystrophies. Proposal for a new nomenclature. Neuromusc Disord 1995;5:337-43.
8. Passos-Bueno MR, Oliveira JR, Bakker E, et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum Mol Genet 1993;2:1945-7.
9. Romero NB, Tomé FMS, Leturcq F, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C R Acad Sci III 1994;317:70-6.