CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation.

ABSTRACT:

Rationale

Nemaline myopathy (NM) is a rare inherited muscle disorder characterized by nemaline rods in muscle fibers and clinically presenting with muscle weakness and hypotonia. This report describes a case of NM caused by a mutation in the ACTA1 (actin alpha 1) gene to enhance the understanding of its diagnosis and clinical course, particularly in the context of pregnancy.

Patient concerns

A 33-year-old female presented with progressive lower limb weakness and muscle atrophy. Symptom onset occurred during pregnancy. Laboratory tests revealed an elevated serum creatine kinase level (1011 U/L).

Diagnoses

Genetic testing identified a heterozygous missense mutation (Q139H, c.417G>C) in exon 3 of the ACTA1 gene, confirming the diagnosis of NM. A muscle biopsy to definiti

SUBMITTER: Pei X 

PROVIDER: S-EPMC12599729 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature