Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene

Neuromuscular Disorders

Volumn 11, Issue 5, 2001, Pages 494-498

  Romero, Norma Beatriz ^a   De Lonlay, Pascale ^b   Llense, Stephane ^c   Leturcq, France ^c   Touati, Guy ^b   Urtizberea, J Andoni ^b   Saudubray, Jean Marie ^b   Munnich, Arnold ^b   Kaplan, Jean Claude ^c   Récan, Dominique ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Hôpital Cochin ^*  (France)

Author keywords

Duchenne muscular dystrophy; Rhabdomyolysis; Sarcoglycan complex; X chromosome inactivation

Indexed keywords

DYSTROPHIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DELTOID MUSCLE; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; MOSAICISM; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE REGENERATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RHABDOMYOLYSIS; X CHROMOSOME;

EID: 0034993854     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00192-4     Document Type: Article

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