A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

Neurogenetics

Volumn 8, Issue 3, 2007, Pages 225-229

  Todorova, Albena ^a   Georgieva, Bilyana ^a,b   Tournev, Ivailo ^c   Todorov, Tihomir ^a   Bogdanova, Nadja ^d   Mitev, Vanyo ^b   Mueller, Clemens R ^e   Kremensky, Ivo ^a   Horst, Jürgen ^d  

^a University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^d UNIVERSITY OF MÜNSTER   (Germany)

^e UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Calpain 3; CAPN3; LGMD2A; Limb girdle muscular dystrophy

Indexed keywords

CALPAIN 3;

ADULT; ALLELE; ARTICLE; BULGARIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISEASE COURSE; FEMALE; GENE DELETION; GENETICS; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BULGARIA; CALPAIN; CHILD; FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; POINT MUTATION; SEQUENCE DELETION;

EID: 34447315003     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0083-3     Document Type: Article

References (9)

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