Internal medicine (Tokyo, Japan)
A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.
Yohei Iguchi, Koyo Tsujikawa, Ayuka Murakami, Kodai Kume, Yuka Nakazawa, Taichi Oso, Yosuke Nishio, Koji Matsuo, Yuki Fukami, Kunihiko Araki, Tomoo Ogi, Hideshi Kawakami, Masahisa Katsuno
Published: 202510.2169/internalmedicine.6194-25
Abstract
This study describes a family of patients with distal muscle atrophy and oculopharyngodistal myopathy (OPDM). Patients with distal muscle atrophy exhibited slowly progressive distal-predominant muscle weakness without ptosis, ophthalmoplegia, or faci…
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