Limb-girdle muscular dystrophy Type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene

Journal of Clinical Neuromuscular Disease

Volumn 12, Issue 2, 2010, Pages 62-65

  Peddareddygari, Leema Reddy ^a   Surgan, Victoria ^a   Grewal, Raji P ^a  

^a NEW JERSEY NEUROSCIENCE INSTITUTE   (United States)

Author keywords

Asian Indian; Genotype phenotype; LGMD 2A

Indexed keywords

ASPARTIC ACID; CALPAIN 3; HISTIDINE;

ADULT; ARTICLE; ASIAN; CASE REPORT; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INDIA; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CALPAIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; POINT MUTATION;

EID: 78651473780     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e3181f3dbd3     Document Type: Article

References (7)

1. Amato AA, Russell JA. Muscular Dystrophies. Neuromuscular Disorders. New York: The McGraw-Hill Companies, Inc; 2008:529-576.
2. Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312:141-148.
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.
4. Chiannilkulchai N, Pasturaud P, Richard I, et al. A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Hum Mol Genet. 1995;4:717-725.
5. Beckmann JS, Spencer M. Calpain 3, the 'gatekeeper' of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 2008;18:913-921.
6. Guglieri M, Straub V, Bushby K, et al. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008;21:576-584.
7. Todorova A, Kress W, Mueller C. Novel mutations in the calpain 3 gene in Germany. Clin Genet. 2005;67:356-358.