A novel mutation in two families with limb-girdle muscular dystrophy type 2C

Neurology

Volumn 67, Issue 1, 2006, Pages 167-169

  Duncan, D R ^a   Kang, P B ^a,b   Rabbat, J C ^a   Briggs, C E ^a   Lidov, H G W ^a   Darras, B T ^b   Kunkel, L M ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SARCOGLYCAN; GLUTAMIC ACID; LYSINE; MUSCLE PROTEIN; TCAP PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PUERTO RICO; ADOLESCENT; CHILD; FAMILY HEALTH; GENETICS; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; HUMANS; LYSINE; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 33746805060     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000223600.78363.dd     Document Type: Article

References (9)

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