A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

European Journal of Neurology

Volumn 14, Issue 7, 2007, Pages 819-822

  Matsubara, E ^a,d   Tsuchiya, A ^a   Minami, N ^b   Nishino, I ^b   Pappolla, M A ^c   Shoji, M ^a   Abe, K ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

Author keywords

Asymmetrical muscle atrophy; CAPN3 gene; Compound heterozygote; LGMD2A

Indexed keywords

CREATINE KINASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BICEPS BRACHII MUSCLE; CAPN3 GENE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DNA DETERMINATION; DYSTROPHY; ELECTROMYOGRAM; FEMALE; GENE; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RNA ANALYSIS; WESTERN BLOTTING;

ADULT; BIOPSY; CALPAIN; CATALYTIC DOMAIN; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; JAPAN; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, X-RAY COMPUTED; VIETNAM;

EID: 34347354376     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01808.x     Document Type: Article

References (5)

1. Zatz M, Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders 2003 13 : 532 544. [Review]
2. Richard I, Broux O, Allamand V, et al. Mutation in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995 81 : 27 40.
3. Sorimachi H, Imajoh-Ohmi S, Emori Y, et al. Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and μ-types. Specific expression of the mRNA in skeletal muscle. The Journal of Biological Chemistry 1989 25 : 20106 20111.
4. Minami N, Nishino I, Kobayashi O, et al. Mutation of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. Journal of the Neurological Sciences 1999 171 : 31 37.
5. Richard I, Roudaut C, Saenz A, et al. Calpainopathy - a survey of mutations and polymorphisms. American Journal of Human Genetics 1999 64 : 1524 1540.