Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

Neurology

Volumn 69, Issue 10, 2007, Pages 1035-1042

  Okada, M ^a,b   Kawahara, G ^a   Noguchi, S ^a   Sugie, K ^a   Murayama, K ^a   Nonaka, I ^a   Hayashi, Y K ^a   Nishino, I ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOHO UNIVERSITY OHASHI MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; CYSTEINE;

ADOLESCENT; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; COLLAGEN DEFECT; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MORBIDITY; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOLEMMA; TRIPLE HELIX;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VI; FEMALE; HUMANS; INFANT; JAPAN; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 34548459740     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000271387.10404.4e     Document Type: Article

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