A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.

ABSTRACT:

Background and objectives

Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-causing gene in this patient and verify the NM diagnosis.

Methods

Mutation analysis methods include our self-designed nemaline myopathy array, The Nemaline Myopathy Comparative Genomic Hybridisation Array (NM-CGH array), whole-genome array-CGH, dHPLC, Sanger sequencing and whole-exome sequencing. The diagnostic muscle biopsy was investigated further by routine histopathological methods.

Results

We present here the first large (17-21 kb) aberration in the α-tropomyosinslow gen

SUBMITTER: Kiiski K 

PROVIDER: S-EPMC5240603 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature