Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Journal of Medical Genetics

Volumn 42, Issue 9, 2005, Pages 686-693

  Piluso, G ^a   Politano, L ^a   Aurino, S ^b   Fanin, M ^c   Ricci, E ^e   Ventriglia, V M ^a   Belsito, A ^b   Totaro, A ^b   Saccone, V ^b   Topaloglu, H ^f   Nascimbeni, A C ^d   Fulizio, L ^d   Broccolini, A ^e   Canki Klain, N ^g   Comi, L I ^a   Nigro, G ^a   Angelini, C ^c   Nigro, Vincenzo ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f ANKARA UNIVERSITY   (Turkey)

^g UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CREATINE KINASE;

ALLELE; ARTICLE; AUTOSOMAL INHERITANCE; CALPAIN 3 GENE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; CREATINE KINASE BLOOD LEVEL; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; NON INVASIVE MEASUREMENT; NUCLEOTIDE SEQUENCE; PELVIS; PHENOTYPE; PRIORITY JOURNAL; SHOULDER GIRDLE; SYMPTOM;

ADULT; CALPAIN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COHORT STUDIES; DNA; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 24944464625     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.028738     Document Type: Article

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