Literature DB >> 11562567

The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.

E S Gordon1, E P Hoffman.   

Abstract

Limb-girdle muscular dystrophy is a class of disorders encompassing many forms of this disease. Variation exists between the inheritance patterns, genes responsible, course of disease and symptoms, with the cohesive factor among these disorders being the predominance of proximal muscle weakness. Here we review each form of limb-girdle muscular dystrophy with attention to molecular genetics, clinical features, inheritance, and diagnostic issues pertaining to each primary genetic cause.

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Year:  2001        PMID: 11562567     DOI: 10.1097/00019052-200110000-00004

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  5 in total

1.  The development of the myotendinous junction. A review.

Authors:  Benjamin Charvet; Florence Ruggiero; Dominique Le Guellec
Journal:  Muscles Ligaments Tendons J       Date:  2012-09-10

Review 2.  Collagen VI related muscle disorders.

Authors:  A K Lampe; K M D Bushby
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

Review 3.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
Journal:  Nervenarzt       Date:  2004-12       Impact factor: 1.214

Review 4.  Role of calpains in diabetes mellitus: a mini review.

Authors:  Fredrick Harris; Lee Chatfield; Jaipaul Singh; David A Phoenix
Journal:  Mol Cell Biochem       Date:  2004-06       Impact factor: 3.396

5.  Rare disease clinical trials: Power in numbers.

Authors:  Matthew P Wicklund
Journal:  Neurol Genet       Date:  2016-08-04
  5 in total

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