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Volumn 65, Issue 11, 2005, Pages 1832-1833

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CALPAINOPATHY; CAPN3 GENE; CLINICAL ARTICLE; DISEASE COURSE; FAMILY; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTRANSLUCENT LUNG; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; XK GENE; CASE REPORT; CHOREA; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLISM; MUSCLE CELL; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SKELETAL MUSCLE; STOP CODON; SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 33645054855     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000187073.58307.41     Document Type: Article
Times cited : (14)

References (10)
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  • 3
    • 20344386015 scopus 로고    scopus 로고
    • Calpains and human diseases
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    • (2005) N Engl J Med , vol.352 , pp. 2413-2423
    • Zatz, M.1    Starling, A.2
  • 4
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    • Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
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  • 5
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    • McLeod neuroacanthocythosis: Genotype and phenotype
    • Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocythosis: genotype and phenotype. Ann Neurol 2001;50:755-764.
    • (2001) Ann Neurol , vol.50 , pp. 755-764
    • Danek, A.1    Rubio, J.P.2    Rampoldi, L.3
  • 6
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
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    • (1995) Cell , vol.81 , pp. 27-40
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  • 7
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    • The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
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    • (1996) Hum Mol Genet , vol.5 , pp. 1963-1969
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    • Calpainopathy - A survey of mutations and polymorphisms
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.