Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

Acta Myol. 2020 Mar 1;39(1):24-28. doi: 10.36185/2532-1900-004. eCollection 2020 Mar.

Abstract

Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phenotypes and morphological abnormalities associated. We present a male Portuguese patient with the classical phenotype of Laing early-onset distal myopathy (MPD1) beginning at 6 years of age, very slowly progressive, and with a mild to moderate impact on daily life by the age of 56. Muscle biopsy showed a myopathic pattern with hyaline bodies and cores. The NGS panel for structural myopathies identified a novel missense heterozygous variant, c.T4652C (p.Leu1551Pro), in the exon 34 of the MYH7 gene.

Keywords: MYH7 gene variant; laing early-onset distal myopathy; subsarcolemmal hyaline bodies.

Publication types

  • Case Reports

MeSH terms

  • Biopsy / methods*
  • Cardiac Myosins / genetics*
  • Disease Progression
  • Distal Myopathies* / diagnosis
  • Distal Myopathies* / genetics
  • Distal Myopathies* / physiopathology
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Male
  • Middle Aged
  • Muscle Strength
  • Muscle, Skeletal / pathology*
  • Muscular Atrophy* / diagnosis
  • Muscular Atrophy* / physiopathology
  • Mutation, Missense
  • Myosin Heavy Chains / genetics*
  • Neurologic Examination / methods

Substances

  • MYH7 protein, human
  • Cardiac Myosins
  • Myosin Heavy Chains