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1例肢带型肌营养不良1B型的临床和遗传学特点
This article reports a case of limb-girdle muscular dystrophy type 1B (LGMD1B) caused by a novel splicing heterozygous mutation in the LMNA gene. The proband presented with progressive aggravation of weakness in walking. There was no atrophy of the scapular muscles and the lower-extremity proximal m...
Gardado en:
| Publicado en: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
中国当代儿科杂志编辑部
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389491/ https://ncbi.nlm.nih.gov/pubmed/30572990 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.12.007 |
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