New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Neurogenetics

Volumn 5, Issue 1, 2004, Pages 27-34

  Louhichi, Nacim ^a   Triki, Chahnez ^b   Quijano Roy, Susana ^c   Richard, Pascale ^d   Makri, Samira ^e   Méziou, Mériem ^b   Estournet, Brigitte ^c   Mrad, Slah ^c   Romero, Norma B ^d   Ayadi, Hammadi ^a   Guicheney, Pascale ^d   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Etablissement Hospitalier Spécialisé Ali Ait Idir   (Algeria)

Author keywords

Cerebellar cysts; Congenital muscular dystrophy; FKRP gene; Founder haplotype; Mental retardation

Indexed keywords

CREATINE KINASE;

ARTICLE; BRAIN CYST; BRAIN FUNCTION; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLUM; CEREBELLUM VERMIS; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; FAMILY; FEMALE; FKRP GENE; FOUNDER EFFECT; GASTROCNEMIUS MUSCLE; GENE; GENETIC ANALYSIS; GLYCOSYLATION; HAPLOTYPE; HEART DISEASE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOPLASIA; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROSATELLITE MARKER; MISSENSE MUTATION; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STRABISMUS; TUNISIA; WALKING;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GLYCOSYLATION; HAPLOTYPES; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUSCULAR DYSTROPHIES; PEDIGREE; PROTEINS; TUNISIA;

EID: 10744223007     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-003-0165-9     Document Type: Article

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