Article
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.
Internal medicine (Tokyo, Japan) - 1 Sept 2017
Kojima Yuta, Noto Yu-Ichi, Takewaki Daiki, Tokuda Naoki, Shiga Kensuke, Hamano Ai, Mizuta Ikuko, Muranishi Manabu, Kasai Takashi, Nakagawa Masanori, Mizuno Toshiki
Abstract excerpt
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical...
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