Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies

Bioscience Reports

Volumn 31, Issue 2, 2011, Pages 125-135

  Hadj Salem, Ikhlass ^a   Kamoun, Fatma ^b   Louhichi, Nacim ^a   Rouis, Souad ^c   Mziou, Mariam ^b   Fendri Kriaa, Nourhene ^a   Makni Ayadi, Fatma ^d   Triki, Chahnez ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^d HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Genetic and phenotypic heterogeneities; Intron retention; Limb girdle muscular dystrophy type 2A; Muscular dystrophy congenital type 1A; Nonsense mediated mRNA decay

Indexed keywords

CALPAIN 3; LAMININ ALPHA2; MEROSIN; MESSENGER RNA; CALPAIN; CAPN3 PROTEIN, HUMAN; LAMININ; MUSCLE PROTEIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PHENOTYPE; PROGRESSIVE MUSCULAR DYSTROPHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; SCHOOL CHILD; SEQUENCE ANALYSIS; WESTERN BLOTTING; CHROMOSOME MAP; CONSANGUINITY; FAMILY; GENETICS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; RNA STABILITY; STOP CODON; TUNISIA;

BASE SEQUENCE; BLOTTING, WESTERN; CALPAIN; CHROMOSOME MAPPING; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMANS; LAMININ; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA STABILITY; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA; TUNISIA;

EID: 79952505359     PISSN: 01448463     EISSN: None     Source Type: Journal    
DOI: 10.1042/BSR20100026     Document Type: Article

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