Trusted Resources: Education
Scientific literature and patient education texts
Missense Mutation in Gene Caused Psychomotor Developmental Delay and Muscle Weakness: A Case Report
source: World journal of clinical cases
year: 2021
authors: Ding FJ,Lyu GZ,Zhang VW,Jin H
summary/abstract:The gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED). The incidence of the disease is low, and it is difficult to diagnose, especially in children. Here, we report a case of gene mutation and review the related literature to improve the pediatrician’s understanding of gene-related disease to make an early correct diagnosis and provide better services for children.
organization: Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.DOI: 10.12998/wjcc.v9.i30.9302
read more
Related Content
-
SMA Screening Now Available to 87% of Newborns in USScreening for spinal muscular atrophy (S...
-
mySMAteam – FacebookmySMAteam is the social network for thos...
-
Gene Therapy Improves Muscle Function for Children With Spinal Muscular AtrophyChildren with spinal muscular atrophy (S...
-
A Case Series of Paediatric Patients With Spinal Muscular Atrophy Type I Undergoing Scoliosis Correction SurgerySpinal muscular atrophy is a neuromuscul...
-
Spinal Muscular Atrophy 2020: SMA Medications for Treatment Updateshttps://www.youtube.com/watch?v=dnSXnvrO...
-
Spinal Muscular Atrophy: From Rags to RichesThe aim of this paper is to provide a sh...
-
FDA-Approved Treatment Provides Life-Saving Miracle for Girl With Spinal Muscular AtrophyAlex says her daughter made it to Norton...