Two novel CAV3 gene mutations in Japanese families

Neuromuscular Disorders

Volumn 14, Issue 12, 2004, Pages 810-814

  Sugie, Kazuma ^a,b   Murayama, Kumiko ^a   Noguchi, Satoru ^a   Murakami, Nobuyuki ^c   Mochizuki, Mika ^d   Hayashi, Yukiko K ^a   Nonaka, Ikuya ^a   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NARA MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d Department of Neurology   (Japan)

Author keywords

CAV3; Caveolin 3; Caveolinopathy; LGMD 1C

Indexed keywords

CAVEOLIN 3; CREATINE KINASE;

ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; FAMILY; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOTHER; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ADULT; CAVEOLIN 3; CAVEOLINS; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; HYPERTROPHY; JAPAN; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; UP-REGULATION; VARIATION (GENETICS);

EID: 9644310403     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.08.008     Document Type: Article

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