Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features
Mutations in the four and a half LIM protein 1 gene were recently identified as the cause of
four distinct skeletal muscle diseases. Since the initial report outlining the first four and a half
LIM protein 1 mutation in 2008, over 25 different mutations have been identified in patients
with reducing body myopathy, X-linked myopathy characterized by postural muscle atrophy,
scapuloperoneal myopathy and Emery–Dreifuss muscular dystrophy. Reducing body
myopathy was first described four decades ago, its underlying genetic cause was unknown …
four distinct skeletal muscle diseases. Since the initial report outlining the first four and a half
LIM protein 1 mutation in 2008, over 25 different mutations have been identified in patients
with reducing body myopathy, X-linked myopathy characterized by postural muscle atrophy,
scapuloperoneal myopathy and Emery–Dreifuss muscular dystrophy. Reducing body
myopathy was first described four decades ago, its underlying genetic cause was unknown …