Abstract |
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. The definition is highly descriptive and less ambiguous by exclusion: non-Xlinked, non-FSH, non-myotonic, non-distal, nonsyndromic, and non-congenital. At present, the genetic classification is becoming too complex, since the acronym LGMD has also been used for a number of other myopathic disorders with overlapping phenotypes. Today, the list of genes to be screened is too large for the gene-by-gene approach and it is well suited for targeted next generation sequencing (NGS) panels that should include any gene that has been so far associated with a clinical picture of LGMD. The present review has the aim of recapitulating the genetic basis of LGMD ordering and of proposing a nomenclature for the orphan forms. This is useful given the pace of new discoveries. Thity-one loci have been identified so far, eight autosomal dominant and 23 autosomal recessive. The dominant forms (LGMD1) are: LGMD1A (myotilin), LGMD1B ( lamin A/C), LGMD1C ( caveolin 3), LGMD1D (DNAJB6), LGMD1E ( desmin), LGMD1F ( transportin 3), LGMD1G (HNRPDL), LGMD1H (chr. 3). The autosomal recessive forms ( LGMD2) are: LGMD2A ( calpain 3), LGMD2B ( dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J ( titin), LGMD2K (POMT1), LGMD2L ( anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P ( dystroglycan), LGMD2Q ( plectin), LGMD2R ( desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V ( Glucosidase, alpha ), LGMD2W (PINCH2).
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Authors | Vincenzo Nigro, Marco Savarese |
Journal | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
(Acta Myol)
Vol. 33
Issue 1
Pg. 1-12
(May 2014)
ISSN: 1128-2460 [Print] Italy |
PMID | 24843229
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Topics |
- Disease Progression
- Genetic Predisposition to Disease
- Humans
- Muscular Dystrophies, Limb-Girdle
(genetics, physiopathology)
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