Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

ABSTRACT:

Objective

Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.

Methods

Altogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated.

Results

Three families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weak

SUBMITTER: Palmio J 

PROVIDER: S-EPMC6394805 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature