Untangling the complexity of limb-girdle muscular dystrophies

Teerin Liewluck, Margherita Milone

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically identified muscular dystrophies with an LGMD phenotype not yet classified as LGMD. This highlights the entanglement of LGMDs, which represents an area in continuous expansion. Herein we aim to simplify the complexity of LGMDs by subgrouping them on the basis of the underlying defective protein and impaired function.

Original languageEnglish (US)
JournalMuscle and Nerve
DOIs
StateAccepted/In press - Jan 1 2018

Keywords

  • Calpainopathy
  • Caveolae-associated muscular dystrophies
  • LGMD
  • Limb-girdle muscular dystrophies
  • Muscular dystrophies with defective membrane repair
  • Myofibrillar myopathy
  • Nuclear envelopathies
  • Sarcoglycanopathies
  • Z-disk proteinopathies
  • α-dystroglycanopathies

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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