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LGMD. Identification, description and classification.

Corrado Angelini1

  • 1IRCCS Fondazione San Camillo Hospital, Venice, Italy.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|January 18, 2021
PubMed
Summary
This summary is machine-generated.

Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders. Historical review details clinical and genetic discoveries, highlighting key subtypes and future diagnostic potential.

Area of Science:

  • Neurology
  • Genetics
  • Muscular Dystrophy Research

Background:

  • Limb girdle muscular dystrophy (LGMD) was identified as a distinct clinical entity in 1954.
Keywords:
calpain-3dysferlinlimb girdle dystrophysarcoglycanstransportin-3

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  • LGMD is recognized as a heterogeneous group of neuromuscular disorders.
  • Formal classification and operating definitions for LGMD were established through ENMC workshops in 1995 and 2017.