کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5632264 | 1406532 | 2016 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Case reportAn elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles Case reportAn elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles](/preview/png/5632264.png)
- LGMD1B with paraspinal pseudo-hypertrophy is presented.
- Late-onset and paraspinal pseudo-hypertrophy make this case unique.
- p.Arg377His mutation in LMNA causes diverse phenotypes.
- Paraspinal pseudo-hypertrophy might be related to elderly-onset myopathies.
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.
Journal: Neuromuscular Disorders - Volume 26, Issue 9, September 2016, Pages 593-597