Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 476-478, 2014.
Article
ي Zh
| WPRIM
| ID: wpr-291749
المكتبة المسؤولة:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).</p><p><b>METHODS</b>Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.</p><p><b>RESULTS</b>The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).</p><p><b>CONCLUSION</b>LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Molecular Sequence Data
/
Base Sequence
/
Exons
/
Muscular Dystrophies, Limb-Girdle
/
Connectin
/
Genetics
نوع الدراسة:
Prognostic_studies
المحددات:
Adult
/
Female
/
Humans
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2014
نوع:
Article