Servicio de Neurología Hospital Universitario de Getafe.
Servicio de Neumología Hospital Universitario de Getafe.
Neurol India. 2021 Nov-Dec;69(6):1835-1837. doi: 10.4103/0028-3886.333448.
Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature.
We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene.
The patient presented progressive motor delay from 10 months with a physical examination consisting of global hypotonia, bilateral winged scapula, areflexia, hip and knee flexion posture, and positive Gowers. The patient developed progressive weakness with neck tone loss, functional impairment, and loss of gait at 5 years.
To date, more than 20 mutations associated with congenital LMNA muscular dystrophy have been identified, most due to a single amino acid change (aa), few due to the gain or loss of several aa as in our patient.
层粘连蛋白病是一组由 LMNA 基因突变引起的疾病。先天性肌营养不良是一种罕见疾病，文献中描述的病例少于 100 例。
我们报告了一名先天性肌营养不良患者的临床病例，该患者的 LMNA 基因存在未描述的突变。
该患者从 10 个月开始出现进行性运动延迟，体格检查表现为全身张力减退，双侧翼状肩，反射消失，髋关节和膝关节弯曲姿势，以及阳性 Gowers 征。患者在 5 岁时出现进行性无力，伴有颈部张力丧失、功能障碍和步态丧失。
迄今为止，已经发现了 20 多种与先天性 LMNA 肌营养不良相关的突变，大多数是由于单个氨基酸改变（aa），少数是由于我们患者中存在多个 aa 的获得或丧失。
