Novel autosomal dominant TNNT 1 mutation causing nemaline myopathy

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Population

A large extended family residing in the United States with nemaline myopathy (NEM)

Design

Case_series

Authors

Discussion

Expands the genetic spectrum of nemaline myopathy for diagnostic screening; leaves open the broader.

Population

A large extended family residing in the United States with nemaline myopathy (NEM)

Intervention

Sanger sequencing for TNNT1, RT-PCR, and immunoblot on muscle biopsies

Outcome

Identification of the genetic mutation responsible for nemaline myopathy in the family

Identifies a novel autosomal dominant TNNT1 mutation causing nemaline myopathy, expanding the genetic understanding of the disease.

Konersman et al. (2017) studied this question.

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