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December 2015

Dismantling Limb-Girdle Muscular Dystrophy: The Role of Whole-Exome Sequencing

Author Affiliations
  • 1Department of Neurology, Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, Massachusetts
JAMA Neurol. 2015;72(12):1409-1411. doi:10.1001/jamaneurol.2015.2749

Muscular dystrophy encompasses a diverse group of genetically determined muscle disorders. The first clinical description of the disorder is attributed to Giovanni Semmola, who, in 1829, described 2 boys affected by a disorder with prominent muscular hypertrophy.1 Between 1850 and 1868, Aran, Meryon, and Duchenne described a progressive atrophy of voluntary muscles, ultimately termed pseudohypertrophic muscular paralysis of children by Duchenne.1,2 Other descriptions followed: familial atrophy of the pelvic girdle muscles (Leyden in 1876), scapulohumeral muscular atrophy (Erb in 1884), and myopathy with facial weakness (Landouzy and Dejerine in 1884).1 The term limb-girdle muscular dystrophy (LGMD), suggested by Stevenson in 1953,3 and further detailed by Walton and Nattrass in a seminal article,2 refers to a group of muscular dystrophies with onset of weakness in the shoulder or pelvic girdles.4 The variable clinical course of this disorder was recognized even in these early descriptions.2,3