Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29.

Abstract

Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy.

Keywords: KLHL40; Nemaline myopathy.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation*
  • Myopathies, Nemaline / genetics*
  • Myopathies, Nemaline / pathology
  • Myopathies, Nemaline / physiopathology*
  • Phenotype

Substances

  • KLHL40 protein, human
  • Muscle Proteins