Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family

Acta Myologica

Volumn 23, Issue 3, 2004, Pages 159-162

  Rivas, E ^a   Teijeira, S ^a   Dos Santos, M R ^b   Porrit, I ^c   Leturcq, F ^d   Fernandez, J M ^e   Navarro, Carmen ^a,f  

^a Meixoeiro Hospital   (Spain)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c Baiona Health Centre   (Spain)

^d Institut Cochin   (France)

^e HOSPITAL XERAL CÍES   (Spain)

^f HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

Beta sarcoglycan; LGMD 2E; Sarcoglycanopathy

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; CREATINE KINASE; DELTA SARCOGLYCAN; GAMMA SARCOGLYCAN; SARCOGLYCAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BETA SARCOGLYCANOPATHY; CASE REPORT; CONSANGUINEOUS MARRIAGE; DISEASE COURSE; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; PHENOTYPE; SPAIN;

ADOLESCENT; EXONS; FEMALE; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; SARCOGLYCANS; SPAIN;

EID: 17444372434     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

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