Molecular diagnosis in LGMD2A: Mutation analysis of protein testing?

Human Mutation

Volumn 24, Issue 1, 2004, Pages 52-62

  Fanin, M ^a,b   Fulizio, L ^a,b   Nascimbeni, A C ^a,b   Spinazzi, M ^a,b   Piluso, G ^c   Ventriglia, V M ^c   Ruzza, G ^a   Siciliano, G ^d   Trevisan, C P ^a   Politano, L ^c   Nigro, V ^c   Angelini, C ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

Calpain 3; CAPN3 mutation detection; LGMD2A; Limb girdle muscular dystrophy; Protein deficiency

Indexed keywords

CALPAIN 3; COMPLEMENTARY DNA; GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; CAPN3 GENE; CHILD; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CALPAIN; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; ISOENZYMES; LOSS OF HETEROZYGOSITY; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN DENATURATION; SENSITIVITY AND SPECIFICITY; SEX DISTRIBUTION;

STAPHYLOCOCCUS PHAGE 3A;

EID: 3042824625     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20058     Document Type: Article

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