Article
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
Neuromuscular disorders : NMD - 1 Sept 2016
Furuta Mitsuru, Sumi-Akamaru Hisae, Takahashi Masanori P, Hayashi Yukiko K, Nishino Ichizo, Mochizuki Hideki
Abstract excerpt
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...
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