title: An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
abstract: Mutations in LMNA, encoding A-type lamins, lead to diverse disorders, collectively called "laminopathies," which affect the striated muscle, cardiac muscle, adipose tissue, skin, peripheral nerve, and premature aging. We describe a patient with limb-girdle muscular dystrophy type 1B (LGMD1B) carrying a heterozygous p.Arg377His mutation in LMNA, in whom skeletal muscle symptom onset was at the age of 65 years. Her weakness started at the erector spinae muscles, which showed marked pseudo-hypertrophy even at the age of 72 years. Her first episode of syncope was at 44 years; however, aberrant cardiac conduction was not revealed until 60 years. The p.Arg377His mutation has been previously reported in several familial LMNA-associated myopathies, most of which showed muscle weakness before the 6th decade. This is the first report of pseudo-hypertrophy of paravertebral muscles in LMNA-associated myopathies. The pseudo-hypertrophy of paravertebral muscles and the elderly-onset of muscle weakness make this case unique and reportable.
authors.affiliation: Department of Neurology, Osaka University Graduate School of Medicine, D-4 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Furuta
authors.affiliation: Department of Neurology, Osaka University Graduate School of Medicine, D-4 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.
authors.forename: Hisae
authors.initials: H
authors.lastname: Sumi-Akamaru
authors.affiliation: Department of Neurology, Osaka University Graduate School of Medicine, D-4 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.
authors.forename: Masanori P
authors.initials: MP
authors.lastname: Takahashi
authors.affiliation: Department of Pathophysiology, Tokyo Medical University, 6-1-1 Shinjuku, Shinjuku-ku, Tokyo 160-8402, Japan.
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology, Osaka University Graduate School of Medicine, D-4 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address: hmochizuki@neurol.med.osaka-u.ac.jp.
authors.forename: Hideki
authors.initials: H
authors.lastname: Mochizuki
mesh_terms: D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000000981:diagnostic imaging / Q000473:pathology; D034904:Lamin Type A / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D064170:Paraspinal Muscles / Q000000981:diagnostic imaging* / Q000473:pathology*
chemical_list: D034904:Lamin Type A
keywords: LMNA; Laminopathy; Late-onset; Limb-girdle muscular dystrophy type 1B; Pseudo-hypertrophy