Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Muscle and Nerve

Volumn 50, Issue 3, 2014, Pages 448-453

  Jaka, Oihane ^a   Azpitarte, Margarita ^a   Paisán Ruiz, Coro ^b   Zulaika, Miren ^a   Casas Fraile, Leire ^a   Sanz, Raúl ^c   Trevisiol, Nathalie ^d   Levy, Nicolas ^d   Bartoli, Marc ^d   Krahn, Martin ^d   López de Munain, Adolfo ^a   Sáenz, Amets ^a  

^a HOSPITAL DONOSTIA   (Spain)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Molecular Diagnostic Unit   (Spain)

^d AIX MARSEILLE UNIVERSITY   (France)

Author keywords

CAPN3; Deletion; Genomic rearrangement; Homozygous mutation; Limb girdle muscular dystrophy type 2A

Indexed keywords

CALPAIN 3;

ADULT; ARTICLE; CASE REPORT; CODON; COPY NUMBER VARIATION; DNA FLANKING REGION; FEMALE; FOLLOW UP; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CAPN3; DELETION; GENOMIC REARRANGEMENT; HOMOZYGOUS MUTATION; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A;

CALPAIN; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE DELETION; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASES; HUMANS; IN SITU HYBRIDIZATION; MAGNETIC RESONANCE IMAGING; MICROARRAY ANALYSIS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84907424227     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24263     Document Type: Article

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