Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

Momma, K.; Noguchi, S.; Malicdan, May Christine V.; Hayashi, Yukiko; Minami, Narihiro; Kamakura, Keiko; Nonaka, Ikuya; Nishino, Ichizo

doi:10.1371/journal.pone.0052002

Cited by 21 publications

(10 citation statements)

References 26 publications

(34 reference statements)

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“…Rimmed vacuoles are not typically associated with BMD and there have been few reports of rimmed vacuoles in BMD (3,7). However, a recent case series found rimmed vacuoles to be present in 12 (18.5%) cases of BMD studied, and therefore, rimmed vacuoles may previously have been under-recognized in BMD (4). In this study, lysosomal and autophagic markers were found to be associated with rimmed vacuoles, together with ubiquitin, amyloid precursor protein and β-amyloid 1-42.…”

Section: Discussionmentioning

confidence: 92%

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A 29‐Year‐Old Man with Difficulty Climbing the Stairs

et al. 2014

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A 29-year-old man described progressive difficulty climbing stairs over a decade. He did not report any other neurological symptoms including upper limb, bulbar, facial or respiratory muscle weakness. His perinatal history and development were unremarkable, although he had never been particularly good at sport. There was no family history of cardiac or neuromuscular disease. Neurological examination revealed an exaggerated lumbar lordosis and myopathic gait. He had moderate symmetrical, predominantly proximal, limb weakness, which was more marked in the lower than the upper limbs and normal tendon reflexes. There was no sensory loss, myotonia or muscle hypertrophy. Serum creatine kinase level was elevated at 1096 IU/L (upper limit of normal: 250 IU/L). Electromyogram was myopathic. Electrocardiogram and echocardiography were normal.

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Section: Discussionmentioning

confidence: 92%

“…Disease duration may also play a role. It was recently observed that BMD patients with rimmed vacuoles were older at the time of muscle biopsy than those without , suggesting that longer disease duration may contribute to their formation.…”

Section: Discussionmentioning

confidence: 99%

A 29‐Year‐Old Man with Difficulty Climbing the Stairs

et al. 2014

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“…ATPase (25,26) and immunohistochemical (27–29) staining were conducted according to previously described methods, using 8-µm sections from each sample. The primary antibodies used were monoclonal anti-dystrophin (Novocastra; Leica Biosystems, Wetzlar, Germany), polyclonal anti-CTGF and polyclonal anti-TGF-β1 (both from Beijing Biosynthesis Biotechnology Co., Ltd., Beijing, China).…”

Section: Methodsmentioning

confidence: 99%

Expression levels of TGF-β1 and CTGF are associated with the severity of Duchenne muscular dystrophy

Song

Yao

Liu

et al. 2017

Experimental and Therapeutic Medicine

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The present study aimed to analyze the association of transforming growth factor-β1 (TGF-β1) and connective tissue growth factor (CTGF) expression levels in skeletal muscle with the clinical manifestation of Duchenne muscular dystrophy (DMD). A total of 18 cases of DMD, which were confirmed by routine pathological diagnosis were recruited into the present study, along with 8 subjects who suffered from acute trauma but did not present any neuromuscular diseases and were enrolled as the healthy controls. Immunohistochemical staining was used to detect the expression levels of CTGF and TGF-β1 in muscle biopsy specimens. Furthermore, Spearman rank correlation analysis was conducted among the expression levels of CTGF and TGF-β1, age, clinical severity and pathological severity in DMD patients. The immunohistochemical staining results revealed that the expression levels of CTGF and TGF-β1 were significantly increased in the DMD group compared with those in the control group (P<0.05). These levels were not found to be significantly correlated with the onset age (P>0.05), but there was a significant correlation with the degree of pathology and clinical severity (P<0.05). In conclusion, an upregulated expression of CTGF and TGF-β1 was revealed in the skeletal muscle of DMD patients, which were in positive correlation with the degree of pathology and clinical severity. These two factors may be involved in the pathophysiology of fibrosis in DMD.

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“…Therefore, BMD patients who were genetically diagnosed and aged over 60 years were searched for in the literature. Thus far, 36 patients have been reported to our knowledge [8, [67][68][69][70][71][72][73][74][75][76][77].…”

Section: Very Elderly Bmd Patientsmentioning

confidence: 99%

Investigational treatments and therapeutic targets in Becker muscular dystrophy

Matsuo

2015

Expert Opinion on Orphan Drugs

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Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

Cited by 21 publications

References 26 publications

A 29‐Year‐Old Man with Difficulty Climbing the Stairs

A 29‐Year‐Old Man with Difficulty Climbing the Stairs

Expression levels of TGF-β1 and CTGF are associated with the severity of Duchenne muscular dystrophy

Investigational treatments and therapeutic targets in Becker muscular dystrophy

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