Novel mutations in the calpain 3 gene in Germany [1]

Clinical Genetics

Volumn 67, Issue 4, 2005, Pages 356-358

  Todorova, Albena ^a   Kress, W ^b   Mueller, C R ^b  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CREATINE KINASE;

ADULT; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DATA ANALYSIS; DISEASE COURSE; FEMALE; GENE MUTATION; GERMANY; HUMAN; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOLECULAR CLONING; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; WESTERN BLOTTING;

ADOLESCENT; ADULT; BLOTTING, WESTERN; CALPAIN; CHILD; FEMALE; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MUTATION, MISSENSE;

EID: 15844410124     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00398.x     Document Type: Letter

References (3)

1. Richard I, Roudaut C, Saenz A et al. Calpainopathy - a survey of mutations and polymorphisms. Am J Hum Genet 1999: 64: 1524-1540.
2. Leiden Muscular Dystrophy pages©. Retrieved from http://www.dmd.nl
3. Richard I, Broux O, Allamand V et al. Mutations in the proteolytic enzyme, calpain 3, cause limb-girdle muscular dystrophy type 2A. Cell 1995: 81: 27-40.