Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

Muscle and Nerve

Volumn 21, Issue 11, 1998, Pages 1493-1501

  Kawai, H ^a   Akaike, M ^a   Kunishige, M ^a   Inui, T ^a   Adachi, K ^a   Kimura, C ^a   Kawajiri, M ^a   Nishida, Y ^a   Endo, I ^a   Kashiwagi, S ^a   Nishino, H ^a   Fujiwara, T ^a   Okuno, S ^a   Roudaut, C ^a   Richard, I ^a   Beckmann, J S ^a   Miyoshi, K ^a   Matsumoto, T ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Calpain 3 gene; Clinical feature; Limb girdle muscular dystrophy type 2A; Mutation; Pathology; Protease

Indexed keywords

CALPAIN; CALPAIN 3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE ATROPHY; ONSET AGE; PRIORITY JOURNAL;

AGE OF ONSET; BIOPSY; CALPAIN; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; ISOENZYMES; JAPAN; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE FIBERS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 17644430614     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1     Document Type: Article

References (46)