Enrichment of the R77C α-sarcoglycan gene mutation in finnish LGMD2D patients

Muscle and Nerve

Volumn 31, Issue 2, 2005, Pages 199-204

  Hackman, P ^a   Juvonen, V ^b   Sarparanta, J ^a   Penttinen, M ^b   Aarimaa T ^b   Uusitalo, M ^c   Auranen, M ^d   Pihko, H ^e   Alen R ^f   Junes, M ^g   Lonnqvist T ^e   Kalimo, H ^a   Udd, B ^h  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

^g LAPLAND CENTRAL HOSPITAL   (Finland)

^h VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

sarcoglycanopathy; Adhalin; LGMD2D; Limb girdle muscular dystrophy; R77C; SGCA

Indexed keywords

ALPHA SARCOGLYCAN GENE; ARGININE; CYSTEINE; SARCOGLYCAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BIRTH RATE; CHILD; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; DNA EXTRACTION; FEMALE; FINLAND; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; LABORATORY DIAGNOSIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PREVALENCE; PRIORITY JOURNAL; RECTUS FEMORIS MUSCLE; TIBIALIS ANTERIOR MUSCLE;

ADOLESCENT; ADULT; ALLELES; CHILD; CONFIDENCE INTERVALS; FEMALE; FINLAND; HAPLOTYPES; HUMANS; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; SARCOGLYCANS;

EID: 19944432526     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20267     Document Type: Article

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