A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: Non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

Neuromuscular Disorders

Volumn 7, Issue 8, 1997, Pages 499-504

  Romero, Norma Beatriz ^a   Récan, Dominique ^b   Rigal, Odile ^a   Leturcq, France ^b   Llense, Stéphane ^b   Barbot, Jean Claude ^b   Deburgrave, Nathalie ^b   Cheval, Marie Armelle ^a   Deniau, Françoise ^c   Kaplan, Jean Claude ^b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b CHU Cochin et INSERM U129 ^*  (France)

^c HÔPITAL DU BOCAGE   (France)

Author keywords

Becker muscular dystrophy; Glycerol kinase deficiency; Non contiguous gene syndrome

Indexed keywords

CONTIG; CREATINE KINASE; DYSTROGLYCAN; DYSTROPHIN; GLYCEROL KINASE; SARCOGLYCAN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILIAL DISEASE; FEMALE; GENE LOCUS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; URINALYSIS; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DYSTROPHIN; FEMALE; GENE DELETION; GLYCEROL KINASE; HUMANS; LINKAGE (GENETICS); MALE; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION; SYNDROME; X CHROMOSOME;

EID: 0344589368     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00114-4     Document Type: Article

References (13)

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