Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

ABSTRACT:

Objective

Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion. We report on 4 French Canadians with a novel form of recessive congenital TNNT1 core-rod myopathy.

Methods

Patients underwent full clinical characterization, lower limb magnetic resonance imaging (MRI), muscle biopsy, and genetic testing. A zebrafish loss-of-function model using morpholinos was created to assess the pathogenicity of the identified variant. Wild-type or mutated human TNNT1 mRNAs were coinjected with morpholinos to assess their abilities to rescue the morphant phenotype.

Results

Three adults and 1 child shared a novel

SUBMITTER: Pellerin D 

PROVIDER: S-EPMC7078025 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature