A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

ABSTRACT:

Background

We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy.

Case presentation

A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3

SUBMITTER: Chen Z 

PROVIDER: S-EPMC10161565 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature