A first missense mutation in the δ sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 951-953

  Moreira, Eloisa S ^a   Vainzof, Mariz ^a   Marie, Suely K ^a   Nigro, Vincenzo ^b   Zatz, Mayana ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

sarcoglycan; Limb girdle muscular dystrophies; Linkage disequilibrium; Sarcoglycanopathies

Indexed keywords

SARCOGLYCAN;

ARTICLE; BRAZIL; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

BRAZIL; CHROMOSOMES, HUMAN, PAIR 5; CYTOSKELETAL PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SARCOGLYCANS;

EID: 0031764046     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

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26. Vainzof M, Moreira ES, Ferraz G, Passos-Bueno MR, Marie SK, Zatz M. Further evidence for the organization of the four sarcoglycan proteins within the dystrophin-glycoprotein complex (DGC). (Submitted.)
27. Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SK, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. (Submitted.)
28. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. The seven autosomal recessive limb-girdle muscular dystrophies (LGMD): from LGMD2A to LGMD2G. (Submitted.)