Results 171 to 180 of about 5,189 (209)

Limb-Girdle Muscular Dystrophies

Continuum
This article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dystrophies (LGMDs).There are currently five dominantly inherited LGMDs (LGMD-D1 to D5) and 29 recessively inherited LGMDs (LGMD-R1 to R29 ...
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
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The limb-girdle muscular dystrophies

European Journal of Paediatric Neurology, 1999
Abstract Literature on any disease is merely a snapshot of the level of understanding of a condition at that time. Since the introduction of the term in the mid 1950s someone reviewing the literature on the limb-girdle muscular dystrophies (LGMD) would recognize immediately that the field has often been confused and controversial over ...
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The Limb-Girdle Muscular Dystrophies

Continuum, 2019
As a group, the limb-girdle muscular dystrophies (LGMDs) are the fourth most prevalent genetic muscle disease, yet they are still not well known or understood. This article defines and describes LGMDs, delineates a diagnostic strategy, and discusses treatment of the LGMDs.In 2018, the definition of the LGMDs was further refined, and a new nomenclature ...
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The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies

Continuum, 2016
The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to ...
Stanley Jones P, Iyadurai, John T, Kissel   +1 more
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The Childhood Limb-Girdle Muscular Dystrophies

Seminars in Pediatric Neurology, 2006
The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identified and insight into ...
Volker, Straub, Kate, Bushby
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Limb-girdle muscular dystrophy 2A

2011
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the gene CAPN3 located in the chromosome region 15q15.1-q21.1. To date more than 300 mutations have been described. This gene encodes for a 94-kDa nonlysosomal calcium-dependent cysteine protease and its function in skeletal muscle is not fully understood. It seems that calpain-3
Eduard, Gallardo, Amets, Saenz, Isabel, Illa   +2 more
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Limb-girdle Muscular Dystrophy in Childhood

Pediatric Annals, 2005
LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with both autosomal recessive and dominant forms. The autosomal recessive forms are more common and in general follow a more severe course compared to the dominant forms.
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A foundation for limb-girdle muscular dystrophy

Nature Medicine, 1995
Recent work suggests that the molecular basis for one form of limb-girdle muscular dystrophy is neither a single gene nor many genes: Enter the digenic model.
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Limb-Girdle Muscular Dystrophy Type 2I

2014
Limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi (MM) are caused by mutations in the DYSF gene encoding the protein dysferlin (Table 10.1). Although the clinical features of LGMD2B and MM are different, both phenotypes can be detected among patients belonging to the same family.
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Other limb-girdle muscular dystrophies

2011
The secondary α-dystroglycanopathies usually present in infancy as congenital muscular dystrophies but may manifest later in childhood or adult life (limb-girdle muscular dystrophy (LGMD) 2I, LGMD2K, LGMD2M, LGMD2N, and LGMD2O). Patients with telethoninopathy (LGMD2B) may present with mainly proximal or distal lower extremity weakness, and notably the ...
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