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Missense Mutation in Gene Caused Psychomotor Developmental Delay and Muscle Weakness: A Case Report

key information

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

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