Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Acta Myol. 2020 Jun 1;39(2):98-100. doi: 10.36185/2532-1900-013. eCollection 2020 Jun.

Abstract

Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the HNRNPDL gene.

Keywords: HNRNPDL; LGDM D3; Limb girdle muscular dystrophy; respiratory muscle involvement.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Italy
  • Middle Aged
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Respiratory Muscles / physiopathology*
  • Ribonucleoproteins / genetics*

Substances

  • HNRPDL protein, human
  • Ribonucleoproteins

Supplementary concepts

  • Limb-Girdle Muscular Dystrophy, Type 1G