Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2

Clinical, pathological, and genetic feat

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

✍ Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 3 views

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in