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The Limb-Girdle Muscular Dystrophies
Continuum, 2019As 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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Limb-Girdle Muscular Dystrophy Type 2I
2014Limb-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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Limb–Girdle Muscular Dystrophies
2017Limb–girdle muscular dystrophies (LGMDs) are a large group of autosomal muscular dystrophies, transmitted as dominant (LGMD 1) and recessive (LGMD 2). Presently at least 8 dominant and 21 recessive forms have been described. All share the broad denominator of limb–girdle weakness; some specific clinical features are known to correlate with the ...
Satish V. Khadilkar +2 more
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Other limb-girdle muscular dystrophies
2011The 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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Limb-Girdle Muscular Dystrophy Type 1B
2014Limb-girdle muscular dystrophy type 1B is characterized by progressive limb-girdle weakness (affecting the pelvic before shoulder girdle), mild joint contractures, atrioventricular cardiac conduction disturbances, and dilated cardiomyopathy. The disease is due to mutations in the LMNA gene, encoding lamins A/C.
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Limb Girdle Muscular Dystrophies
2013Autosomal dominant and recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic diseases with a wide spectrum of clinical involvement and severity. In contrast to the more common X-linked dystrophinopathies, onset is often later during late childhood or at adult age.
Maggie C. Walter, Dirk Fischer
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Limb-girdle muscular dystrophy
DMW - Deutsche Medizinische Wochenschrift, 2001K Eger, S Zierz
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