title: Other limb-girdle muscular dystrophies.
abstract: 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 muscle biopsies may demonstrate rimmed vacuoles. LGMD2L is caused by newly described mutations in ANO5 and can sometimes present with distal weakness resembling Miyoshi myopathy.
authors.affiliation: Department of Neurology, Neuromuscular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115-6110, USA. aamato@partners.org
authors.forename: Anthony A
authors.initials: AA
authors.lastname: Amato
mesh_terms: D049030:Dystroglycans / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D049288:Muscular Dystrophies, Limb-Girdle
chemical_list: D009124:Muscle Proteins; D049030:Dystroglycans