An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 601-602

  Fanin, M ^a   Benedicenti, F ^b   Fritegotto, C ^a   Nascimbeni, A C ^a   Peterle, E ^a   Stanzial, F ^b   Cristofoletti, A ^b   Castellan, C ^b   Angelini, C ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b CENTRAL HOSPITAL OF BOLZANO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3;

ALTERNATIVE RNA SPLICING; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DISEASE COURSE; FAMILY; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC ORIGIN; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMIGRATION; INBRED STRAIN; INTRON; ITALY; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; SPLICING DEFECT; WALKING DIFFICULTY;

BASE SEQUENCE; CALPAIN; CONSANGUINITY; HUMANS; INTRONS; ITALY; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84869087218     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01873.x     Document Type: Letter

References (6)

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