A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

ABSTRACT:

Background

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy.

Case presentation

A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to in

SUBMITTER: Ziyaee F 

PROVIDER: S-EPMC6332642 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature