Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H

Neuromuscular Disorders

Volumn 19, Issue 4, 2009, Pages 255-260

  Cossée, Mireille ^a   Lagier Tourenne, Clotilde ^a,b,c   Seguela, Claire ^a   Mohr, Michel ^a   Leturcq, France ^d   Gundesli, Hulya ^e   Chelly, Jamel ^d   Tranchant, Christine ^a   Koenig, Michel ^a,b,c   Mandel, Jean Louis ^a,b,c,f  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d CHU Hôpital Cochin ^*  (France)

^e HACETTEPE UNIVERSITY   (Turkey)

^f l'alimentation et l'Environnement   (France)

Author keywords

Limb girdle muscular dystrophy; SNP array; TRIM32

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; ELECTROMYOGRAPHY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRIM32 GENE;

ARABS; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; TRANSCRIPTION FACTORS;

EID: 64149130376     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.02.003     Document Type: Article

References (20)

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