Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation inWFS1

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...

a novel missense mutation in clcn1 gene in a family with autosomal recessive congenital myotonia

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family

Vol. 29, No. 6, 2017 801 Received July 27, 2016, Revised October 10, 2016, Accepted for publication October 31, 2016 Corresponding author: Yanhua Liang, Department of Dermatology, Shenzhen Hospital of Southern Medical University, 1333 Xinhu Road, Shenzhen, Guangdong 518100, China. Tel: 86-755-23360448, Fax: 86-755-23360448, E-mail: [email protected] This is an Open Access article distributed ...

A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.

A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It  has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...