Untangling the complexity of limb-girdle muscular dystrophies

Teerin Liewluck, Margherita Milone

Research output: Contribution to journalArticle

21 Citations (Scopus)

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

Fingerprint

Limb-Girdle Muscular Dystrophies
Muscular Dystrophies
Genetic Databases
Muscle Weakness
Hip
Databases
Phenotype

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)

Cite this

Untangling the complexity of limb-girdle muscular dystrophies. / Liewluck, Teerin; Milone, Margherita.

In: Muscle and Nerve, 01.01.2018.

Research output: Contribution to journalArticle

@article{67d320d70e484b3294b537bce638f9c6,
title = "Untangling the complexity of limb-girdle muscular dystrophies",
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.",
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",
author = "Teerin Liewluck and Margherita Milone",
year = "2018",
month = "1",
day = "1",
doi = "10.1002/mus.26077",
language = "English (US)",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - Untangling the complexity of limb-girdle muscular dystrophies

AU - Liewluck, Teerin

AU - Milone, Margherita

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - Calpainopathy

KW - Caveolae-associated muscular dystrophies

KW - LGMD

KW - Limb-girdle muscular dystrophies

KW - Muscular dystrophies with defective membrane repair

KW - Myofibrillar myopathy

KW - Nuclear envelopathies

KW - Sarcoglycanopathies

KW - Z-disk proteinopathies

KW - α-dystroglycanopathies

UR - http://www.scopus.com/inward/record.url?scp=85041628787&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85041628787&partnerID=8YFLogxK

U2 - 10.1002/mus.26077

DO - 10.1002/mus.26077

M3 - Article

C2 - 29350766

AN - SCOPUS:85041628787

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

ER -