Congenital nemaline myopathy caused by KLHL40 gene complex heterozygous variations: a case report
10.3760/cma.j.cn113903-20190713-00439
- VernacularTitle:KLHL40基因复合杂合变异导致先天性线状体肌病一例
- Author:
Xing HU
1
;
Jun XU
;
Furong HUANG
;
Menghua ZHAO
;
Juanmei WANG
;
Ziqi WU
;
Dujiao YANG
;
Aimin ZHANG
Author Information
1. 湖南师范大学附属第一医院 湖南省人民医院新生儿科，长沙 410000
- From:
Chinese Journal of Perinatal Medicine
2020;23(4):262-265
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of nemaline myopathy caused by KLHL40 gene complex heterozygous mutations. This baby girl presented with shortness of breath, low myodynamia, and low muscle tension immediately after birth. However, her symptoms became worse after conventional treatment. Physical examination found lower muscle strength and muscle tone in four limbs and no primitive reflexes. The biochemistry test showed increased serum creatine kinase (CK). A muscle biopsy was not performed. The second-generation gene test confirmed the KLHL40 gene complex heterozygous mutations, which was a known mutation c.932G>T (p.R311L) and a de novo mutation c.1487T>A (p.M496K), inherited from the father and mother, respectively. Nemaline myopathy is a rare congenital muscular disease characterized by nemaline bodies in muscle fibers. Pathological and genetic diagnoses are the gold standards for the diagnosis of this disease.
