Sibling brother and sister both with Duchenne muscular dystrophy / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 543-547, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-229937
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>We conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.</p><p><b>RESULTS</b>These two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.</p><p><b>CONCLUSIONS</b>Carriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Distrofina
/
Distrofia Muscular de Duchenne
/
Irmãos
/
Genética
/
Heterozigoto
/
Ligação Genética
/
Metabolismo
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2007
Tipo de documento:
Artigo
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